共 15 条
[1]
Rare diseases: maintaining momentum
[J].
不详
.
LANCET NEUROLOGY,
2022, 21 (03)
:203-203

不详
论文数: 0 引用数: 0
h-index: 0
[2]
NEUROLOGY OF LANGUAGE
[J].
BRAIN, R
.
BRAIN,
1961, 84 (02)
:145-&

BRAIN, R
论文数: 0 引用数: 0
h-index: 0
[3]
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
[J].
Christensen, Maria B.
;
Levy, Amanda M.
;
Mohammadi, Nazanin A.
;
Niceta, Marcello
;
Kaiyrzhanov, Rauan
;
Dentici, Maria Lisa
;
Al Alam, Chadi
;
Alesi, Viola
;
Benoit, Valerie
;
Bhatia, Kailash P.
;
Bierhals, Tatjana
;
Bosselmann, Christian M.
;
Buratti, Julien
;
Callewaert, Bert
;
Ceulemans, Berten
;
Charles, Perrine
;
De Wachter, Matthias
;
Dehghani, Mohammadreza
;
D'haenens, Erika
;
Doco-Fenzy, Martine
;
Gessner, Michaela
;
Gobert, Cyrielle
;
Guliyeva, Ulviyya
;
Haack, Tobias B.
;
Hammer, Trine B.
;
Heinrich, Tilman
;
Hempel, Maja
;
Herget, Theresia
;
Hoffmann, Ute
;
Horvath, Judit
;
Houlden, Henry
;
Keren, Boris
;
Kresge, Christina
;
Kumps, Candy
;
Lederer, Damien
;
Lermine, Alban
;
Magrinelli, Francesca
;
Maroofian, Reza
;
Mehrjardi, Mohammad Yahya Vahidi
;
Moudi, Mahdiyeh
;
Mueller, Amelie J.
;
Oostra, Anna J.
;
Pletcher, Beth A.
;
Ros-Pardo, David
;
Samarasekera, Shanika
;
Tartaglia, Marco
;
Van Schil, Kristof
;
Vogt, Julie
;
Wassmer, Evangeline
;
Winkelmann, Juliane
.
CLINICAL GENETICS,
2022, 102 (02)
:98-109

Christensen, Maria B.
论文数: 0 引用数: 0
h-index: 0
机构:
Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Levy, Amanda M.
论文数: 0 引用数: 0
h-index: 0
机构:
Copenhagen Univ Hosp, Kennedy Ctr, Dept Clin Genet, Copenhagen, Denmark Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Mohammadi, Nazanin A.
论文数: 0 引用数: 0
h-index: 0
机构:
Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark
Univ Southern Denmark, Dept Reg Hlth Res, Odense, Denmark Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Niceta, Marcello
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Genet & Rare Dis Res Div, Osped Pediat Bambino Gesu, Rome, Italy Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Kaiyrzhanov, Rauan
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Neuromuscular Disorders, Inst Neurol, London, England Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Dentici, Maria Lisa
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Genet & Rare Dis Res Div, Osped Pediat Bambino Gesu, Rome, Italy
Bambino Gesu Pediat Hosp, Acad Dept Pediat, Med Genet Unit, IRCCS, Rome, Italy Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Al Alam, Chadi
论文数: 0 引用数: 0
h-index: 0
机构:
Amer Ctr Psychiat & Neurol, Pediat Neurol Dept, Al Ain, U Arab Emirates
Haykel Hosp, Pediat Neurol Dept, El Koura, Lebanon Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Alesi, Viola
论文数: 0 引用数: 0
h-index: 0
机构:
Osped Pediat Bambino Gesu, IRCCS, Translat Cytogen Res Unit, Rome, Italy Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Benoit, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Human Genet, IPG, Charleroi, Belgium Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Bhatia, Kailash P.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Clin & Movement Neurosci, UCL Queen Sq Inst Neurol, London, England Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Bierhals, Tatjana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Bosselmann, Christian M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurol & Epileptol, Tubingen, Germany Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Buratti, Julien
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Med Genet, Paris, France Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Callewaert, Bert
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium
Univ Ghent, Dept Biomol Med, Ghent, Belgium Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

论文数: 引用数:
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Charles, Perrine
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Med Genet, Paris, France Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

De Wachter, Matthias
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Antwerp Univ Hosp, Dept Pediat Neurol, Edegem, Belgium Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Dehghani, Mohammadreza
论文数: 0 引用数: 0
h-index: 0
机构:
Shahid Sadoughi Univ Med Sci, Med Genet Res Ctr, Yazd, Iran Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

D'haenens, Erika
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Doco-Fenzy, Martine
论文数: 0 引用数: 0
h-index: 0
机构:
HMB2, CHU Reims, SFR CAP SANTE, Reims, France
CHU Nantes, Serv Genet Med, Nantes, France Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Gessner, Michaela
论文数: 0 引用数: 0
h-index: 0
机构:
KfH Kuratorium Dialyse & Nierentransplantat eV, KfH Board Trustees Dialysis & Kidney Transplantat, Neu Isenburg, Germany Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Gobert, Cyrielle
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Hosp Neurol William Lennox, Neuropediat Dept, Ottignies, Belgium Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Guliyeva, Ulviyya
论文数: 0 引用数: 0
h-index: 0
机构:
MediClub Hosp, Dept Pediat, Baku, Azerbaijan Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Haack, Tobias B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany
Univ Tubingen, Ctr Rare Dis, Tubingen, Germany Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Hammer, Trine B.
论文数: 0 引用数: 0
h-index: 0
机构:
Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark
Danish Epilepsy Ctr, Dept Epilepsy Genet & Personalized Treatment, Dianalund, Denmark Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Heinrich, Tilman
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany
MVZ Humangenet & Mol Pathol GmbH, Rostock, Germany Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Hempel, Maja
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Herget, Theresia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Hoffmann, Ute
论文数: 0 引用数: 0
h-index: 0
机构:
St Franziskus Hosp, Munster, Germany Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Horvath, Judit
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munster, Inst Human Genet, Munster, Germany Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Neuromuscular Disorders, Inst Neurol, London, England Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Keren, Boris
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Med Genet, Paris, France Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Kresge, Christina
论文数: 0 引用数: 0
h-index: 0
机构:
Rutgers New Jersey Med Sch, Dept Pediat, Newark, NJ USA Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Kumps, Candy
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Ctr Med Genet, Ghent, Belgium
Univ Ghent, Dept Biomol Med, Ghent, Belgium Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Lederer, Damien
论文数: 0 引用数: 0
h-index: 0
机构:
Ctr Human Genet, IPG, Charleroi, Belgium Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Lermine, Alban
论文数: 0 引用数: 0
h-index: 0
机构:
AP HP, LBBMS SeqOIA, Paris, France Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Magrinelli, Francesca
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Clin & Movement Neurosci, UCL Queen Sq Inst Neurol, London, England Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Maroofian, Reza
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Neuromuscular Disorders, Inst Neurol, London, England Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Mehrjardi, Mohammad Yahya Vahidi
论文数: 0 引用数: 0
h-index: 0
机构:
Shahid Sadoughi Univ Med Sci, Med Genet Res Ctr, Yazd, Iran Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Moudi, Mahdiyeh
论文数: 0 引用数: 0
h-index: 0
机构:
Shahid Sadoughi Univ Med Sci, Dept Genet, Yazd, Iran Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Mueller, Amelie J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Oostra, Anna J.
论文数: 0 引用数: 0
h-index: 0
机构:
Ghent Univ Hosp, Neuropediat Dept, Ghent, Belgium
Univ Hosp Ghent, Ctr Dev Disorders, Ghent, Belgium Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Pletcher, Beth A.
论文数: 0 引用数: 0
h-index: 0
机构:
Rutgers New Jersey Med Sch, Dept Pediat, Newark, NJ USA Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Ros-Pardo, David
论文数: 0 引用数: 0
h-index: 0
机构:
CBMSO CSIC UAM, Ctr Biol Mol Severo Ochoa, Mol Modeling Grp, Madrid, Spain Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Samarasekera, Shanika
论文数: 0 引用数: 0
h-index: 0
机构:
Queen Elizabeth Hosp, Neurol Dept, Birmingham, W Midlands, England Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Tartaglia, Marco
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Genet & Rare Dis Res Div, Osped Pediat Bambino Gesu, Rome, Italy Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Van Schil, Kristof
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Antwerp, Antwerp Univ Hosp, Dept Med Genet, Edegem, Belgium Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

Vogt, Julie
论文数: 0 引用数: 0
h-index: 0
机构:
Birmingham Womens & Childrens Hosp, West Midlands Reg Genet Serv, Birmingham, W Midlands, England Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

论文数: 引用数:
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Winkelmann, Juliane
论文数: 0 引用数: 0
h-index: 0
机构:
Tech Univ Munich, Sch Med, Inst Human Genet, Munich, Germany
Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark
[4]
Trading genes along the silk road:: mtDNA sequences and the origin of central Asian populations
[J].
Comas, D
;
Calafell, F
;
Mateu, E
;
Pérez-Lezaun, A
;
Bosch, E
;
Martínez-Arias, R
;
Clarimon, J
;
Facchini, F
;
Fiori, G
;
Luiselli, D
;
Pettener, D
;
Bertranpetit, J
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1998, 63 (06)
:1824-1838

Comas, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain

Calafell, F
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain

Mateu, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain

Pérez-Lezaun, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain

Bosch, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain

Martínez-Arias, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain

Clarimon, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain

Facchini, F
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain

Fiori, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain

Luiselli, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain

Pettener, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pompeu Fabra, Fac Ciencies Salut & Vida, Unitat Biol Evolut, Barcelona 08003, Catalonia, Spain

论文数: 引用数:
h-index:
机构:
[5]
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
[J].
Engel, Camille
;
Valence, Stephanie
;
Delplancq, Geoffroy
;
Maroofian, Reza
;
Accogli, Andrea
;
Agolini, Emanuele
;
Alkuraya, Fowzan S.
;
Baglioni, Valentina
;
Bagnasco, Irene
;
Becmeur-Lefebvre, Mathilde
;
Bertini, Enrico
;
Borggraefe, Ingo
;
Brischoux-Boucher, Elise
;
Bruel, Ange-Line
;
Brusco, Alfredo
;
Bubshait, Dalal K.
;
Cabrol, Christelle
;
Cilio, Maria Roberta
;
Cornet, Marie-Coralie
;
Coubes, Christine
;
Danhaive, Olivier
;
Delague, Valerie
;
Denomme-Pichon, Anne-Sophie
;
Di Giacomo, Marilena Carmela
;
Doco-Fenzy, Martine
;
Engels, Hartmut
;
Cremer, Kirsten
;
Gerard, Marion
;
Gleeson, Joseph G.
;
Heron, Delphine
;
Goffeney, Joanna
;
Guimier, Anne
;
Harms, Frederike L.
;
Houlden, Henry
;
Iacomino, Michele
;
Kaiyrzhanov, Rauan
;
Kamien, Benjamin
;
Karimiani, Ehsan Ghayoor
;
Kraus, Dror
;
Kuentz, Paul
;
Kutsche, Kerstin
;
Lederer, Damien
;
Massingham, Lauren
;
Mignot, Cyril
;
Morris-Rosendahl, Deborah
;
Nagarajan, Lakshmi
;
Odent, Sylvie
;
Ormieres, Clothilde
;
Partlow, Jennifer Neil
;
Pasquier, Laurent
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2023, 31 (09)
:1023-1031

Engel, Camille
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Valence, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
Sorbonne Univ, Hop Armand Trousseau, APHP, Serv Neurol Pediat, Paris, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Delplancq, Geoffroy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Maroofian, Reza
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, London, England Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Accogli, Andrea
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Dept Specialized Med, Div Med Genet, Hlth Ctr, Montreal, PQ, Canada Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Agolini, Emanuele
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Pediat Hosp, Translat Cytogen Res Unit, Lab Med Genet, IRCCS, Rome, Italy Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Alkuraya, Fowzan S.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh, Saudi Arabia Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Baglioni, Valentina
论文数: 0 引用数: 0
h-index: 0
机构:
Sapienza Univ Rome, Inst Child & Adolescent Neuropsychiat, Dept Human Neurosci, Rome, Italy Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Bagnasco, Irene
论文数: 0 引用数: 0
h-index: 0
机构:
Martini Hosp, Epilepsy Ctr Children, Div Neuropsychiat, I-10141 Turin, Italy Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Becmeur-Lefebvre, Mathilde
论文数: 0 引用数: 0
h-index: 0
机构:
CHR Orleans, Serv Genet Clin, Orleans, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Bertini, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Childrens Hosp IRCCS, Dept Neurosci, Unit Neuromuscular & Neurodegenerat Disorders, Rome, Italy Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Borggraefe, Ingo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Munich, Dept Pediat Neurol Dev Med & Social Pediat, D-80337 Munich, Germany Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Brischoux-Boucher, Elise
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Bruel, Ange-Line
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne Franche Comte, UMR 1231, Inserm, GAD, Dijon, France
CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Genom Malad Rares, FHU TRANSLAD, Dijon, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Brusco, Alfredo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Torino, Dept Med Sci, I-10126 Turin, Italy Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Bubshait, Dalal K.
论文数: 0 引用数: 0
h-index: 0
机构:
Imam Abdulrahman Bin Faisal Univ, Coll Med, Dept Pediat, Dammam, Saudi Arabia Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Cabrol, Christelle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Cilio, Maria Roberta
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, St Luc Univ Hosp, Div Pediat Neurol, Dept Pediat, Brussels, Belgium
Catholic Univ Louvain, Inst Neurosci IoNS, Brussels, Belgium Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Cornet, Marie-Coralie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Francisco, Dept Pediat, Div Neonatol, San Francisco, CA USA Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Coubes, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Montpellier, Hop Arnaud Villeneuve, Dept Genet Med Malad Rares & Med Personnalisee, Montpellier, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Danhaive, Olivier
论文数: 0 引用数: 0
h-index: 0
机构:
St Luc Univ Hosp, Div Neonatol, Brussels, Belgium
Inst Clin & Expt Res IREC, Brussels, Belgium Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Delague, Valerie
论文数: 0 引用数: 0
h-index: 0
机构:
Aix Marseille Univ, Marseille Med Genet Ctr, INSERM, MMG, Marseille, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Denomme-Pichon, Anne-Sophie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne Franche Comte, UMR 1231, Inserm, GAD, Dijon, France
CHU Dijon Bourgogne, Unite Fonct Innovat Diagnost Genom Malad Rares, FHU TRANSLAD, Dijon, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Di Giacomo, Marilena Carmela
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h-index: 0
机构:
San Carlo Hosp, Med Genet Serv, I-85100 Potenza, Italy
San Carlo Hosp, Lab Cytogenet, Anat Patolog SIC, I-85100 Potenza, Italy Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Doco-Fenzy, Martine
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h-index: 0
机构:
CHU Reims, Serv Genet, Reims, France
CHU Nantes, Serv Genet Med, Nantes, France
UNIV Nantes, Inst Thorax, INSERM, Nantes, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Engels, Hartmut
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany
Univ Hosp Bonn, Bonn, Germany Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Cremer, Kirsten
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bonn, Sch Med, Inst Human Genet, Bonn, Germany
Univ Hosp Bonn, Bonn, Germany Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Gerard, Marion
论文数: 0 引用数: 0
h-index: 0
机构:
Cote Nacre Univ Hosp Ctr, Clin Genet, Caen, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Gleeson, Joseph G.
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h-index: 0
机构:
Univ Calif San Diego, Rady Childrens Inst Genom Med, Dept Neurosci, San Diego, CA 92037 USA Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Heron, Delphine
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h-index: 0
机构:
Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Dept Genet, Paris, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Goffeney, Joanna
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h-index: 0
机构:
Univ Franche Comte, Ctr Hosp Univ, Serv Neuropediat, Besancon, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Guimier, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Inst Imagine, Serv Med Genom Malad Rares, Paris, France
Univ Paris Cite, Paris, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Harms, Frederike L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, London, England Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Iacomino, Michele
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h-index: 0
机构:
IRCCS Inst Giannina Gaslini, Unit Med Genet, Genoa, Italy Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Kaiyrzhanov, Rauan
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Neuromuscular Dis, UCL Queen Sq Inst Neurol, London, England Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Kamien, Benjamin
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h-index: 0
机构:
King Edward Mem Hosp, Genet Serv Western Australia, Perth, WA 6008, Australia Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Karimiani, Ehsan Ghayoor
论文数: 0 引用数: 0
h-index: 0
机构:
Next Generat Genet Polyclin, Dept Mol Genet, Mashhad, Iran
St Georges Univ London, Mol & Clin Sci Inst, Cranmer Terrace, London SW17 0RE, England Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Kraus, Dror
论文数: 0 引用数: 0
h-index: 0
机构:
Schneider Childrens Med Ctr Israel, Dept Neurol, Petah Tiqwa, Israel
Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Kuentz, Paul
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bourgogne Franche Comte, UMR 1231, Inserm, GAD, Dijon, France
CHU Besancon, Oncobiol Genet Bioinformat, PCBio, Besancon, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Kutsche, Kerstin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr Hamburg Eppendorf, Inst Human Genet, Hamburg, Germany Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Lederer, Damien
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h-index: 0
机构:
Inst Pathol & Genet, B-6040 Gosselies, Belgium Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Massingham, Lauren
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h-index: 0
机构:
Hasbro Childrens Hosp, Dept Pediat, Div Med Genet, Providence, RI USA Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Mignot, Cyril
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h-index: 0
机构:
Sorbonne Univ, APHP, Dept Genet, Paris, France
Hop Armand Trousseau, Ctr Reference Deficiences Intellectuelles Causes, GH Pitie Salpetriere, Paris, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Morris-Rosendahl, Deborah
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Brompton & Harefield NHS Fdn Trust, Clin Genet & Genom, London, England
Imperial Coll London, NHLI, London, England Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Nagarajan, Lakshmi
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h-index: 0
机构:
Perth Childrens Hosp, Dept Neurol, Nedlands, WA, Australia
Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Odent, Sylvie
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h-index: 0
机构:
Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Ormieres, Clothilde
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h-index: 0
机构:
Hop Necker Enfants Malad, Inst Imagine, Serv Med Genom Malad Rares, Paris, France
Univ Paris Cite, Paris, France Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Partlow, Jennifer Neil
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h-index: 0
机构:
Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France

Pasquier, Laurent
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Univ Franche Comte, Ctr Genet Humaine, Ctr Hosp Univ, Besancon, France
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Hussain, Ghulam
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Neshatdoust, Maedeh
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Yesil, Gozde
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Uygur, Turkan
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Kaiyrzhanov, Rauan
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h-index: 0
机构:
UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Ortigoza-Escobar, Juan Dario
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h-index: 0
机构:
Inst Salud Carlos III, U 703 Ctr Biomed Res Rare Dis CIBER ER, Barcelona, Spain
Hosp St Joan De Deu Barcelona, Inst Recerca, Pediat Neurol Dept, Movement Disorders Unit, Barcelona, Spain
European Reference Network Rare Neurol Dis ERN RND, Barcelona, Spain UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Stringer, Brett W.
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h-index: 0
机构:
Griffith Univ, Griffith Inst Drug Discovery, Ctr Cellular Phen, Sch Environm & Sci, Brisbane, Qld, Australia UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Ganieva, Manizha
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h-index: 0
机构:
Avicenna Tajik State Med Univ, Dept Neurol & Med Genet, Dushanbe, Tajikistan UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Gowda, Vykuntaraju K.
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h-index: 0
机构:
Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore, India UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Srinivasan, Varunvenkat M.
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h-index: 0
机构:
Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore, India UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Macaya, Alfons
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h-index: 0
机构:
European Reference Network Rare Neurol Dis ERN RND, Barcelona, Spain
Univ Autonoma Barcelona, Univ Hosp Vall dHebron, Dept Paediat Neurol, Barcelona, Spain UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Laner, Andreas
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h-index: 0
机构:
MGZ Med Genet Ctr, Munich, Germany UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Onbool, Enas
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h-index: 0
机构:
King Abdulaziz Specialist Hosp, Neurol Dept, Skaka Aljouf, Saudi Arabia UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Al-Shammari, Randa
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h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Med Genom, Riyadh, Saudi Arabia UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Al-Owain, Mohammed
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h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Med Genom, Riyadh, Saudi Arabia
Alfaisal Univ, Coll Med, Riyadh, Saudi Arabia UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Deconinck, Nicolas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles ULB, Hop Univ Bruxelles HUB, Hop Univ Enfants Reine Fabiola HUDERF, Ctr Reference Malad Neuromusculaire & Serv Neurol, Brussels, Belgium UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Vilain, Catheline
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Reine Fabiola HUDERF, Dept Genet, Brussels, Belgium
Univ Libre Bruxelles ULB, Hop Univ Bruxelles HUB, Brussels, Belgium UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Dontaine, Pauline
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles ULB, Hop Univ Bruxelles HUB, Hop Univ Enfants Reine Fabiola HUDERF, Ctr Reference Malad Neuromusculaire & Serv Neurol, Brussels, Belgium UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Self, Eleanor
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Akram, Rabia
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England
Govt Coll Univ, Fac Life Sci, Dept Physiol, Neurochem Biol & Genet Lab NGL, Faisalabad, Pakistan UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

论文数: 引用数:
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Baig, Shahid Mahmood
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Inst Biotechnol & Genet Engn NIBGE Coll, Hlth Biotechnol Div, Human Mol Genet Lab, Faisalabad, Pakistan
Aga Khan Univ, Dept Biol & Biomed Sci, Karachi, Pakistan UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Iqbal, Javed
论文数: 0 引用数: 0
h-index: 0
机构:
Faisalabad Med Univ, Allied Hosp, Dept Neurol, Faisalabad, Pakistan UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Salpietro, Vincenzo
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Neshatdoust, Maedeh
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Isfahan, Fac Biol Sci & Technol, Dept Cell & Mol Biol & Microbiol, Esfahan, Iran UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Kasiri, Mahboubeh
论文数: 0 引用数: 0
h-index: 0
机构:
Shahrekord Univ Med Sci, Sch Med, Shahrekord, Iran UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Yesil, Gozde
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkiye UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Uygur, Turkan
论文数: 0 引用数: 0
h-index: 0
机构:
Bezmialem Vakif Univ, Dept Pediat Neurol, Istanbul, Turkiye UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Pysden, Karen
论文数: 0 引用数: 0
h-index: 0
机构:
Leeds Teaching Hosp, Leeds Gen Infirm, Paediat Neurol Dept, Leeds, England UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Berry, Ian R.
论文数: 0 引用数: 0
h-index: 0
机构:
Yorkshire & North East Genom Lab Hub Cent Lab, Leeds, England UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Alves, Cesar Augusto
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp Philadelphia, Dept Radiol, Philadelphia, PA USA UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

论文数: 引用数:
h-index:
机构:

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England

Maroofian, Reza
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England
UCL Inst Neurol, Dept Neuromuscular Disorders, Room 711,Queen Sq, London WC1N 3BG, England UCL, UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London, England
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Elbendary, Hasnaa M.
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ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY,
2022, 9 (12)
:2025-2035

Kaiyrzhanov, Rauan
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Zaki, Maha S.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res Div, Cairo, Egypt UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Lau, Tracy
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

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h-index:
机构:

Azizimalamiri, Reza
论文数: 0 引用数: 0
h-index: 0
机构:
Ahvaz Jundishapur Univ Med Sci, Med Educ & Res Ctr, Dept Paediat Neurol, Ahvaz, Golestan, Iran UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Zamani, Mina
论文数: 0 引用数: 0
h-index: 0
机构:
Shahid Chamran Univ Ahvaz, Fac Sci, Dept Biol, Ahvaz, Iran UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Sayin, Gozde Yesil
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Istanbul Fac Med, Dept Med Genet, TR-34098 Istanbul, Turkey UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Hilander, Taru
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, Mol & Clin Sci, Genet Sect, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Efthymiou, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Chelban, Viorica
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Brown, Ruth
论文数: 0 引用数: 0
h-index: 0
机构:
Churchill Hosp, Oxford Med Genet Labs, Oxford OX3 7LJ, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Thompson, Kyle
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Wellcome Ctr Mitochondrial Res, Translat & Clin Res Inst, Fac Med Sci, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Scarano, Maria Irene
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Reg Hosp, Div Genet, Cooper Hlth Syst, Sheridan Pavil, Camden, NJ 08103 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Ganesh, Jaya
论文数: 0 引用数: 0
h-index: 0
机构:
Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Koneev, Kairgali
论文数: 0 引用数: 0
h-index: 0
机构:
Asfendiyarov Kazakh Natl Med Univ, Dept Neurol & Neurosurg, Alma Ata 050000, Kazakhstan UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Gulacar, Ismail Musab
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Istanbul Fac Med, Dept Med Genet, TR-34098 Istanbul, Turkey
Istanbul Univ, Inst Grad Studies Hlth Sci, Dept Genet, TR-34098 Istanbul, Turkey UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Person, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD 20877 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Sadykova, Dinara
论文数: 0 引用数: 0
h-index: 0
机构:
Astana Med Univ, Nur Sultan, Kazakhstan UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Maidyrov, Yerdan
论文数: 0 引用数: 0
h-index: 0
机构:
Asfendiyarov Kazakh Natl Med Univ, Dept Neurol & Neurosurg, Alma Ata 050000, Kazakhstan UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Seifi, Tahereh
论文数: 0 引用数: 0
h-index: 0
机构:
Shahid Chamran Univ Ahvaz, Fac Sci, Dept Biol, Ahvaz, Iran UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Zadagali, Aizhan
论文数: 0 引用数: 0
h-index: 0
机构:
LN Gumilyov Eurasian Natl Univ, Nur Sultan, Kazakhstan UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Bernard, Genevieve
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada
McGill Univ, Dept Pediat & Human Genet, Montreal, PQ, Canada
McGill Univ, Hlth Ctr, Dept Specialized Med, Div Med Genet, Montreal, PQ, Canada
McGill Univ, Hlth Ctr, Res Inst, Child Hlth & Human Dev Program, Montreal, PQ, Canada UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Allis, Katrina
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD 20877 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Elloumi, Houda Zghal
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD 20877 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Lindy, Amanda
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD 20877 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Taghiabadi, Ehsan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Skin & Stem Cell Res Ctr, Tehran, Iran UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Verma, Sumit
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Neurol, Atlanta, GA 30322 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Logan, Rachel
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Healthcare Atlanta, Div Neurosci, Atlanta, GA USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Kirmse, Brian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Mississippi, Med Ctr, Div Genet, Jackson, MS 39216 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Bai, Renkui
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD 20877 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Khalaf, Shaimaa M.
论文数: 0 引用数: 0
h-index: 0
机构:
Assiut Univ, Pediat Dept, Assiut, Egypt UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Abdel-Hamid, Mohamed S.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Human Genet & Genome Res Inst, Med Mol Genet Dept, Cairo, Egypt UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Sedaghat, Alireza
论文数: 0 引用数: 0
h-index: 0
机构:
Ahvaz Jundishapur Univ Med Sci, Diabet Res Ctr, Hlth Res Inst, Ahvaz, Iran UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Shariati, Gholamreza
论文数: 0 引用数: 0
h-index: 0
机构:
Ahvaz Jundishapur Univ Med Sci, Fac Med, Dept Med Genet, Ahvaz, Iran
Narges Med Genet & Prenatal Diag Lab, East Mihan Ave, Ahvaz, Iran UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Issa, Mahmoud
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res Div, Cairo, Egypt UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Zeighami, Jawaher
论文数: 0 引用数: 0
h-index: 0
机构:
Narges Med Genet & Prenatal Diag Lab, East Mihan Ave, Ahvaz, Iran UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Elbendary, Hasnaa M.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res Div, Cairo, Egypt UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Brown, Garry
论文数: 0 引用数: 0
h-index: 0
机构:
Churchill Hosp, Oxford Med Genet Labs, Oxford OX3 7LJ, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Taylor, Robert W.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Wellcome Ctr Mitochondrial Res, Translat & Clin Res Inst, Fac Med Sci, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England
Newcastle Upon Tyne Hosp NHS Fdn Trust, NHS Highly Specialised Serv Rare Mitochondrial Di, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Galehdari, Hamid
论文数: 0 引用数: 0
h-index: 0
机构:
Shahid Chamran Univ Ahvaz, Fac Sci, Dept Biol, Ahvaz, Iran UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Gleeson, Joseph J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Dept Neurosci, La Jolla, CA 92093 USA
Rady Childrens Inst Genom Med, San Diego, CA 92025 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Carroll, Christopher J.
论文数: 0 引用数: 0
h-index: 0
机构:
St Georges Univ London, Mol & Clin Sci, Genet Sect, London, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Cowan, James A.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Dept Chem & Biochem, 100 West 18th Ave, Columbus, OH 43210 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Moreno-De-Luca, Andres
论文数: 0 引用数: 0
h-index: 0
机构:
Geisinger, Genom Med Inst, Autism & Dev Med Inst, Dept Radiol, Danville, PA 17822 USA UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England

Maroofian, Reza
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England
[10]
Biallelic loss of EMC10 leads to mild to severe intellectual disability
[J].
Kaiyrzhanov, Rauan
;
Rocca, Clarissa
;
Suri, Mohnish
;
Gulieva, Sughra
;
Zaki, Maha S.
;
Henig, Noa Z.
;
Siquier, Karine
;
Guliyeva, Ulviyya
;
Mounir, Samir M.
;
Marom, Daphna
;
Allahverdiyeva, Aynur
;
Megahed, Hisham
;
van Bokhoven, Hans
;
Cantagrel, Vincent
;
Rad, Aboulfazl
;
Pourkeramti, Alemeh
;
Dehghani, Boshra
;
Shao, Diane D.
;
Markus-Bustani, Keren
;
Sofrin-Drucker, Efrat
;
Orenstein, Naama
;
Salayev, Kamran
;
Arrigoni, Filippo
;
Houlden, Henry
;
Maroofian, Reza
.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY,
2022, 9 (07)
:1080-1089

Kaiyrzhanov, Rauan
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Rocca, Clarissa
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Suri, Mohnish
论文数: 0 引用数: 0
h-index: 0
机构:
Nottingham Univ Hosp NHS Trust, Clin Genet Serv, Nottingham, England UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Gulieva, Sughra
论文数: 0 引用数: 0
h-index: 0
机构:
MediClub Hosp, 45 Uzeyir Hajibeyli Str, AZ-1010 Baku, Azerbaijan UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Zaki, Maha S.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Clin Genet Dept, Human Genet & Genome Res Div, Cairo, Egypt UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Henig, Noa Z.
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Sourasky Med Ctr, Genet Inst, Tel Aviv, Israel UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Siquier, Karine
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris Cite, Imagine Inst, Dev Brain Disorders Lab, INSERM UMR, Paris, France UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Guliyeva, Ulviyya
论文数: 0 引用数: 0
h-index: 0
机构:
MediClub Hosp, 45 Uzeyir Hajibeyli Str, AZ-1010 Baku, Azerbaijan UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Mounir, Samir M.
论文数: 0 引用数: 0
h-index: 0
机构:
Menia Univ, Fac Med, Pediat Dept, Al Minya, Egypt UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Marom, Daphna
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Sourasky Med Ctr, Genet Inst, Tel Aviv, Israel
Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Allahverdiyeva, Aynur
论文数: 0 引用数: 0
h-index: 0
机构:
Child Neurol Hosp, Taghi Shahbazi Str, AZ-1065 Baku, Azerbaijan UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Megahed, Hisham
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Clin Genet Dept, Cairo, Egypt UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

van Bokhoven, Hans
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Donders Ctr Brain Cognit & Behav, Dept Human Genet, Med Ctr, Nijmegen, Netherlands UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

论文数: 引用数:
h-index:
机构:

Rad, Aboulfazl
论文数: 0 引用数: 0
h-index: 0
机构:
Eberhard Karls Univ Tubingen, Tubingen Hearing Res Ctr, Dept Otolaryngol Head & Neck Surg, D-72076 Tubingen, Germany UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Pourkeramti, Alemeh
论文数: 0 引用数: 0
h-index: 0
机构:
Ashkezar Univ, Med Biotechnol Res Ctr, Ashkezar, Yazd, Iran UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Dehghani, Boshra
论文数: 0 引用数: 0
h-index: 0
机构:
Ashkezar Univ, Med Biotechnol Res Ctr, Ashkezar, Yazd, Iran UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Shao, Diane D.
论文数: 0 引用数: 0
h-index: 0
机构:
Boston Childrens Hosp, Dept Neurol, Boston, MA USA
Boston Childrens Hosp, Dept Pediat, Div Genet & Genom, Boston, MA USA UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Markus-Bustani, Keren
论文数: 0 引用数: 0
h-index: 0
机构:
Rabin Med Ctr Beilinson Hosp, Raphael Recanati Genet Inst, Petah Tiqwa, Israel UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Sofrin-Drucker, Efrat
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel
Schneider Children Med Ctr Israel, Dept Pediat Genet, Petah Tiqwa, Israel UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Orenstein, Naama
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Fac Med, Tel Aviv, Israel
Schneider Children Med Ctr Israel, Dept Pediat Genet, Petah Tiqwa, Israel UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Salayev, Kamran
论文数: 0 引用数: 0
h-index: 0
机构:
Azerbaijan Med Univ, Dept Neurol, Baku, Azerbaijan UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Arrigoni, Filippo
论文数: 0 引用数: 0
h-index: 0
机构:
V Buzzi Childrens Hosp, Paediat Radiol & Neuroradiol Dept, Milan, Italy UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Houlden, Henry
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England

Maroofian, Reza
论文数: 0 引用数: 0
h-index: 0
机构:
UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England UCL, Dept Neuromuscular Disorders, Queen Sq Inst Neurol, London, England