共 4 条
[1]
Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
[J].
Courage, Carolina
;
Oliver, Karen L.
;
Park, Eon Joo
;
Cameron, Jillian M.
;
Grabinska, Kariona A.
;
Muona, Mikko
;
Canafoglia, Laura
;
Gambardella, Antonio
;
Said, Edith
;
Afawi, Zaid
;
Baykan, Betul
;
Brandt, Christian
;
di Bonaventura, Carlo
;
Chew, Hui Bein
;
Criscuolo, Chiara
;
Dibbens, Leanne M.
;
Castellotti, Barbara
;
Riguzzi, Patrizia
;
Labate, Angelo
;
Filla, Alessandro
;
Giallonardo, Anna T.
;
Berecki, Geza
;
Jackson, Christopher B.
;
Joensuu, Tarja
;
Damiano, John A.
;
Kivity, Sara
;
Korczyn, Amos
;
Palotie, Aarno
;
Striano, Pasquale
;
Uccellini, Davide
;
Giuliano, Loretta
;
Andermann, Eva
;
Scheffer, Ingrid E.
;
Michelucci, Roberto
;
Bahlo, Melanie
;
Franceschetti, Silvana
;
Sessa, William C.
;
Berkovic, Samuel F.
;
Lehesjoki, Anna-Elina
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2021, 108 (04)
:722-738

Courage, Carolina
论文数: 0 引用数: 0
h-index: 0
机构:
Folkhalsan Res Ctr, Helsinki 00290, Finland
Univ Helsinki, Dept Med & Clin Genet Med, Helsinki 00290, Finland Folkhalsan Res Ctr, Helsinki 00290, Finland

Oliver, Karen L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Epilepsy Res Ctr, Dept Med, Austin Hlth, Heidelberg, Vic 3084, Australia
Walter & Eliza Hall Inst Med Res, Populat Hlth & Immun Div, Parkville, Vic 3052, Australia
Univ Melbourne, Dept Med Biol, Melbourne, Vic 3010, Australia Folkhalsan Res Ctr, Helsinki 00290, Finland

Park, Eon Joo
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Pharmacol & Vasc Biol, 10 Amistad St, New Haven, CT 06520 USA
Yale Univ, Sch Med, Therapeut Program, 10 Amistad St, New Haven, CT 06520 USA Folkhalsan Res Ctr, Helsinki 00290, Finland

Cameron, Jillian M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Epilepsy Res Ctr, Dept Med, Austin Hlth, Heidelberg, Vic 3084, Australia Folkhalsan Res Ctr, Helsinki 00290, Finland

Grabinska, Kariona A.
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Pharmacol & Vasc Biol, 10 Amistad St, New Haven, CT 06520 USA
Yale Univ, Sch Med, Therapeut Program, 10 Amistad St, New Haven, CT 06520 USA Folkhalsan Res Ctr, Helsinki 00290, Finland

Muona, Mikko
论文数: 0 引用数: 0
h-index: 0
机构:
Folkhalsan Res Ctr, Helsinki 00290, Finland
Blueprint Genet, Espoo 02150, Finland Folkhalsan Res Ctr, Helsinki 00290, Finland

Canafoglia, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Neurophysiopathol, I-20133 Milan, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

Gambardella, Antonio
论文数: 0 引用数: 0
h-index: 0
机构:
Magna Graecia Univ Catanzaro, Inst Neurol, I-88100 Catanzaro, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

Said, Edith
论文数: 0 引用数: 0
h-index: 0
机构:
Mater Dei Hosp, Sect Med Genet, Msida 2090, MSD, Malta
Univ Malta, Dept Anat & Cell Biol, Msida 2090, MSD, Malta Folkhalsan Res Ctr, Helsinki 00290, Finland

Afawi, Zaid
论文数: 0 引用数: 0
h-index: 0
机构:
Ben Gurion Univ Negev, Ctr Neurosci, IL-8410402 Beer Sheva, Israel Folkhalsan Res Ctr, Helsinki 00290, Finland

Baykan, Betul
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Istanbul Fac Med, Dept Neurol, TR-34452 Istanbul, Turkey
Istanbul Univ, Istanbul Fac Med, Dept Clin Neurophysiol, TR-34452 Istanbul, Turkey Folkhalsan Res Ctr, Helsinki 00290, Finland

Brandt, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Epilepsy Ctr Bethel, D-33617 Bielefeld, Germany Folkhalsan Res Ctr, Helsinki 00290, Finland

di Bonaventura, Carlo
论文数: 0 引用数: 0
h-index: 0
机构:
Sapienza Univ Rome, Dept Human Neurosci, Viale Univ 30, I-00185 Rome, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

Chew, Hui Bein
论文数: 0 引用数: 0
h-index: 0
机构:
Minist Hlth Malaysia, Kuala Lumpur Hosp, Genet Dept, Kuala Lumpur 50586, Malaysia Folkhalsan Res Ctr, Helsinki 00290, Finland

论文数: 引用数:
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Dibbens, Leanne M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ South Australia, UniSA Clin & Hlth Sci, Australian Ctr Precis Hlth, Epilepsy Res Grp, Adelaide, SA 5000, Australia Folkhalsan Res Ctr, Helsinki 00290, Finland

Castellotti, Barbara
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Neurol Carlo Besta, Unit Genet Neurodegenerat & Metab Dis, I-20133 Milan, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

Riguzzi, Patrizia
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Unit Neurol, Ist Sci Neurol Bologna, Bellaria Hosp, I-40139 Bologna, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

Labate, Angelo
论文数: 0 引用数: 0
h-index: 0
机构:
Magna Graecia Univ Catanzaro, Inst Neurol, I-88100 Catanzaro, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

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机构:

Giallonardo, Anna T.
论文数: 0 引用数: 0
h-index: 0
机构:
Sapienza Univ, Human Neurosci Dept, Neurol Unit, I-00185 Rome, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

Berecki, Geza
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Ion Channels & Dis Grp, Parkville, Vic 3052, Australia Folkhalsan Res Ctr, Helsinki 00290, Finland

Jackson, Christopher B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, Fac Med, Stem Cells & Metab Res Program, Helsinki 00290, Finland Folkhalsan Res Ctr, Helsinki 00290, Finland

Joensuu, Tarja
论文数: 0 引用数: 0
h-index: 0
机构:
Folkhalsan Res Ctr, Helsinki 00290, Finland Folkhalsan Res Ctr, Helsinki 00290, Finland

Damiano, John A.
论文数: 0 引用数: 0
h-index: 0
机构:
Galmarini Tradate Hosp, Neurol Neurophysiol Unit, ASST Sette Laghi, I-21049 Tradate, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

Kivity, Sara
论文数: 0 引用数: 0
h-index: 0
机构:
Schneider Childrens Med Ctr Israel, Epilepsy Unit, IL-4922297 Petah Tiqvah, Israel Folkhalsan Res Ctr, Helsinki 00290, Finland

Korczyn, Amos
论文数: 0 引用数: 0
h-index: 0
机构:
Tel Aviv Univ, Sackler Fac Med, IL-60198 Tel Aviv, Israel Folkhalsan Res Ctr, Helsinki 00290, Finland

Palotie, Aarno
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Helsinki, HiLIFE, Inst Mol Med Finland FIMM, Helsinki 00290, Finland
Massachusetts Gen Hosp, Dept Med, Dept Neurol, Analyt & Translat Genet Unit, Boston, MA 02114 USA
Massachusetts Gen Hosp, Dept Psychiat, Boston, MA 02114 USA
Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Boston, MA 02142 USA
Broad Inst MIT & Harvard, Program Med & Populat Genet, Boston, MA 02142 USA Folkhalsan Res Ctr, Helsinki 00290, Finland

Striano, Pasquale
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist G Gaslini, Pediat Neurol & Muscular Dis Unit, I-16147 Genoa, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

Uccellini, Davide
论文数: 0 引用数: 0
h-index: 0
机构:
Galmarini Tradate Hosp, Neurol Neurophysiol Unit, ASST Sette Laghi, I-21049 Tradate, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

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Andermann, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
Montreal Neurol Hosp & Inst, Neurogenet Unit, Montreal, PQ H3A 2B4, Canada
Montreal Neurol Hosp & Inst, Epilepsy Res Grp, Montreal, PQ H3A 2B4, Canada
McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ H3A 0G4, Canada
McGill Univ, Dept Human Genet, Montreal, PQ H3A 0G4, Canada Folkhalsan Res Ctr, Helsinki 00290, Finland

Scheffer, Ingrid E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Epilepsy Res Ctr, Dept Med, Austin Hlth, Heidelberg, Vic 3084, Australia
Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia
Univ Melbourne, Royal Childrens Hosp, Dept Paediat, Parkville, Vic 3052, Australia
Florey Inst, Parkville, Vic 3052, Australia Folkhalsan Res Ctr, Helsinki 00290, Finland

Michelucci, Roberto
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Unit Neurol, Ist Sci Neurol Bologna, Bellaria Hosp, I-40139 Bologna, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

Bahlo, Melanie
论文数: 0 引用数: 0
h-index: 0
机构:
Walter & Eliza Hall Inst Med Res, Populat Hlth & Immun Div, Parkville, Vic 3052, Australia
Univ Melbourne, Dept Med Biol, Melbourne, Vic 3010, Australia Folkhalsan Res Ctr, Helsinki 00290, Finland

Franceschetti, Silvana
论文数: 0 引用数: 0
h-index: 0
机构:
Fdn IRCCS, Ist Neurol Carlo Besta, Neurophysiopathol, I-20133 Milan, Italy Folkhalsan Res Ctr, Helsinki 00290, Finland

Sessa, William C.
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Pharmacol & Vasc Biol, 10 Amistad St, New Haven, CT 06520 USA
Yale Univ, Sch Med, Therapeut Program, 10 Amistad St, New Haven, CT 06520 USA Folkhalsan Res Ctr, Helsinki 00290, Finland

Berkovic, Samuel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Epilepsy Res Ctr, Dept Med, Austin Hlth, Heidelberg, Vic 3084, Australia Folkhalsan Res Ctr, Helsinki 00290, Finland

Lehesjoki, Anna-Elina
论文数: 0 引用数: 0
h-index: 0
机构:
Folkhalsan Res Ctr, Helsinki 00290, Finland
Univ Helsinki, Dept Med & Clin Genet Med, Helsinki 00290, Finland Folkhalsan Res Ctr, Helsinki 00290, Finland
[2]
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
[J].
Hamdan, Fadi F.
;
Myers, Candace T.
;
Cossette, Patrick
;
Lemay, Philippe
;
Spiegelman, Dan
;
Laporte, Alexandre Dionne
;
Nassif, Christina
;
Diallo, Ousmane
;
Monlong, Jean
;
Cadieux-Dion, Maxime
;
Dobrzeniecka, Sylvia
;
Meloche, Caroline
;
Retterer, Kyle
;
Cho, Megan T.
;
Rosenfeld, Jill A.
;
Bi, Weimin
;
Massicotte, Christine
;
Miguet, Marguerite
;
Brunga, Ledia
;
Regan, Brigid M.
;
Mo, Kelly
;
Tam, Cory
;
Schneider, Amy
;
Hollingsworth, Georgie
;
FitzPatrick, David R.
;
Donaldson, Alan
;
Canham, Natalie
;
Blair, Edward
;
Kerr, Bronwyn
;
Fry, Andrew E.
;
Thomas, Rhys H.
;
Shelagh, Joss
;
Hurst, Jane A.
;
Brittain, Helen
;
Blyth, Moira
;
Lebel, Robert Roger
;
Gerkes, Erica H.
;
Davis-Keppen, Laura
;
Stein, Quinn
;
Chung, Wendy K.
;
Dorison, Sara J.
;
Benke, Paul J.
;
Fassi, Emily
;
Corsten-Janssen, Nicole
;
Kamsteeg, Erik-Jan
;
Mau-Them, Frederic T.
;
Bruel, Ange-Line
;
Verloes, Alain
;
Ounap, Katrin
;
Wojcik, Monica H.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2017, 101 (05)
:664-685

Hamdan, Fadi F.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Myers, Candace T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Div Genet Med, Dept Pediat, Seattle, WA 98195 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Cossette, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Montreal, Res Ctr, Montreal, PQ H2X 0A9, Canada
Univ Montreal, Dept Neurosci, Montreal, PQ H3T 1J4, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Lemay, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Spiegelman, Dan
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal Neurol Inst, Dept Neurol & Neurosurg, Montreal, PQ H3A 2B4, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Laporte, Alexandre Dionne
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal Neurol Inst, Dept Neurol & Neurosurg, Montreal, PQ H3A 2B4, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Nassif, Christina
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Diallo, Ousmane
论文数: 0 引用数: 0
h-index: 0
机构:
McGill Univ, Montreal Neurol Inst, Dept Neurol & Neurosurg, Montreal, PQ H3A 2B4, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

论文数: 引用数:
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Cadieux-Dion, Maxime
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Montreal, Res Ctr, Montreal, PQ H2X 0A9, Canada
Childrens Mercy Kansas City, Ctr Pediat Genom Med, Kansas City, MO 64108 USA
Childrens Mercy Kansas City, Dept Pathol & Lab Med, Kansas City, MO 64108 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Dobrzeniecka, Sylvia
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Montreal, Res Ctr, Montreal, PQ H2X 0A9, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Meloche, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Montreal, Res Ctr, Montreal, PQ H2X 0A9, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Retterer, Kyle
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD 20877 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Cho, Megan T.
论文数: 0 引用数: 0
h-index: 0
机构:
GeneDx, Gaithersburg, MD 20877 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Rosenfeld, Jill A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Bi, Weimin
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
Baylor Coll Med, Baylor Miraca Genet Labs, Houston, TX 77021 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Massicotte, Christine
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Miguet, Marguerite
论文数: 0 引用数: 0
h-index: 0
机构:
CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Brunga, Ledia
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Sick Children, Div Neurol, Dept Pediat, Program Genet & Genome Biol, Toronto, ON M5G 0A4, Canada
Univ Toronto, Toronto, ON M5G 0A4, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Regan, Brigid M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Toronto Western Hosp, Epilepsy Genet Program, Krembil Neurosci Ctr,Div Neurol, Toronto, ON M5G 2C4, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Mo, Kelly
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Toronto Western Hosp, Epilepsy Genet Program, Krembil Neurosci Ctr,Div Neurol, Toronto, ON M5G 2C4, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Tam, Cory
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Toronto Western Hosp, Epilepsy Genet Program, Krembil Neurosci Ctr,Div Neurol, Toronto, ON M5G 2C4, Canada CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Schneider, Amy
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Heidelberg, Vic 3084, Australia CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Hollingsworth, Georgie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Heidelberg, Vic 3084, Australia CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

FitzPatrick, David R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Edinburgh, Western Gen Hosp, MRC Inst Genet & Mol Med, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Donaldson, Alan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Bristol NHS Fdn Trust, St Michaels Hosp, Clin Genet Serv, St Michaels Hill, Bristol BS2 8DT, Avon, England CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Canham, Natalie
论文数: 0 引用数: 0
h-index: 0
机构:
London North West Healthcare NHS Trust, Northwick Pk Hosp, North West Thames Reg Genet Serv, Watford Rd, Harrow HA1 3UJ, Middx, England CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Blair, Edward
论文数: 0 引用数: 0
h-index: 0
机构:
Oxford Univ Hosp NHS Fdn Trust, Nuffield Orthopaed Ctr, Oxford Ctr Genom Med, ACE Bldg, Oxford OX3 7HE, England CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Kerr, Bronwyn
论文数: 0 引用数: 0
h-index: 0
机构:
Cent Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, St Marys Hosp, Manchester Ctr Genom Med, Manchester M13 9WL, Lancs, England CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Fry, Andrew E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Wales, Inst Med Genet, Heath Pk, Cardiff CF14 4XW, S Glam, Wales CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Thomas, Rhys H.
论文数: 0 引用数: 0
h-index: 0
机构:
Cardiff Univ, MRC Ctr Neuropsychiat Genet & Genom, Hadyn Ellis Bldg, Cardiff CF24 4HQ, S Glam, Wales CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Shelagh, Joss
论文数: 0 引用数: 0
h-index: 0
机构:
Queen Elizabeth Univ Hosp, West Scotland Reg Genet Serv, Glasgow G51 4TF, Lanark, Scotland CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Hurst, Jane A.
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London WC1N 3JH, England CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Brittain, Helen
论文数: 0 引用数: 0
h-index: 0
机构:
Great Ormond St Hosp Sick Children, North East Thames Reg Genet Serv, London WC1N 3JH, England CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Blyth, Moira
论文数: 0 引用数: 0
h-index: 0
机构:
Leeds Teaching Hosp NHS Trust, Chapel Allerton Hosp, Dept Clin Genet, Yorkshire Reg Genet Serv, Chapeltown Rd, Leeds LS7 4SA, W Yorkshire, England CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Lebel, Robert Roger
论文数: 0 引用数: 0
h-index: 0
机构:
SUNY Upstate Med Univ, Med Genet Sect, Dept Pediat, Syracuse, NY 13210 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Gerkes, Erica H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Davis-Keppen, Laura
论文数: 0 引用数: 0
h-index: 0
机构:
Univ South Dakota, Sanford Sch Med, Sioux Falls, SD 57117 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Stein, Quinn
论文数: 0 引用数: 0
h-index: 0
机构:
Augustana Sanford Genet Counseling Grad Program, Sioux Falls, SD 57197 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Chung, Wendy K.
论文数: 0 引用数: 0
h-index: 0
机构:
Columbia Univ, Med Ctr, Dept Med, New York, NY 10032 USA
Columbia Univ, Med Ctr, Dept Pediat, New York, NY 10032 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Dorison, Sara J.
论文数: 0 引用数: 0
h-index: 0
机构:
Baptist Hosp Miami, Miami, FL 33176 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Benke, Paul J.
论文数: 0 引用数: 0
h-index: 0
机构:
Joe DiMaggio Childrens Hosp, Hollywood, FL 33021 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Fassi, Emily
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Dept Pediat, Sch Med, Div Genet & Genom Med, St Louis, MO 63110 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Corsten-Janssen, Nicole
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Kamsteeg, Erik-Jan
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Med Ctr, Donders Ctr Brain Cognit & Behav, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Mau-Them, Frederic T.
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Dijon, Ctr Genet Anomalies Dev, F-21000 Dijon, France
Univ Bourgogne, Equipe INSERM 1231, Genet Anomalies Dev, F-21000 Dijon, France CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Bruel, Ange-Line
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Dijon, Ctr Genet Anomalies Dev, F-21000 Dijon, France
Univ Bourgogne, Equipe INSERM 1231, Genet Anomalies Dev, F-21000 Dijon, France CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

Verloes, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Robert Debre Univ Hosp, AP HP, Genet Dept, F-75000 Paris, France CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada

论文数: 引用数:
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Wojcik, Monica H.
论文数: 0 引用数: 0
h-index: 0
机构:
Harvard Med Sch, Boston Childrens Hosp, Dept Med, Div Genet & Genom, Boston, MA 02115 USA
Harvard Med Sch, Boston Childrens Hosp, Dept Med, Div Newborn Med, Boston, MA 02115 USA
Broad Inst MIT & Harvard, Cambridge, MA 02142 USA CHU, St Justine Res Ctr, Montreal, PQ H3T 1C5, Canada
[3]
Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy
[J].
Togashi, Noriko
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Fujita, Atsushi
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Shibuya, Moriei
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Uneoka, Saki
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Miyabayashi, Takuya
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Sato, Ryo
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Okubo, Yukimune
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Endo, Wakaba
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Inui, Takehiko
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Jin, Kazutaka
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Matsumoto, Naomichi
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Haginoya, Kazuhiro
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BRAIN & DEVELOPMENT,
2020, 42 (09)
:696-699

Togashi, Noriko
论文数: 0 引用数: 0
h-index: 0
机构:
Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan

Fujita, Atsushi
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan

Shibuya, Moriei
论文数: 0 引用数: 0
h-index: 0
机构:
Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan

Uneoka, Saki
论文数: 0 引用数: 0
h-index: 0
机构:
Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan

Miyabayashi, Takuya
论文数: 0 引用数: 0
h-index: 0
机构:
Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan

Sato, Ryo
论文数: 0 引用数: 0
h-index: 0
机构:
Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan

Okubo, Yukimune
论文数: 0 引用数: 0
h-index: 0
机构:
Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan

Endo, Wakaba
论文数: 0 引用数: 0
h-index: 0
机构:
Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan

Inui, Takehiko
论文数: 0 引用数: 0
h-index: 0
机构:
Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan

Jin, Kazutaka
论文数: 0 引用数: 0
h-index: 0
机构:
Tohoku Univ, Dept Epileptol, Grad Sch Med, Sendai, Miyagi 9808574, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan

Matsumoto, Naomichi
论文数: 0 引用数: 0
h-index: 0
机构:
Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan

Haginoya, Kazuhiro
论文数: 0 引用数: 0
h-index: 0
机构:
Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan Miyagi Childrens Hosp, Dept Pediat Neurol, Sendai, Miyagi 9893126, Japan
[4]
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania
[J].
Ware, Tyson L.
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Huskins, Shannon R.
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Grinton, Bronwyn E.
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Liu, Yu-Chi
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Bennett, Mark F.
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Harvey, Michael
;
McMahon, Jacinta
;
Andreopoulos-Malikotsinas, Danae
;
Bahlo, Melanie
;
Howell, Katherine B.
;
Hildebrand, Michael S.
;
Damiano, John A.
;
Rosenfeld, Alexander
;
Mackay, Mark T.
;
Mandelstam, Simone
;
Leventer, Richard J.
;
Harvey, A. Simon
;
Freeman, Jeremy L.
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Scheffer, Ingrid E.
;
Jones, Dean L.
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Berkovic, Samuel F.
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EPILEPSIA OPEN,
2019, 4 (03)
:504-510

Ware, Tyson L.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Huskins, Shannon R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tasmania, Sch Med, Hobart, Tas, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Grinton, Bronwyn E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Austin Hlth, Heidelberg, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Liu, Yu-Chi
论文数: 0 引用数: 0
h-index: 0
机构:
Walter & Eliza Hall Inst Med Res, Melbourne, Vic, Australia
Univ Melbourne, Dept Med Biol, Melbourne, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Bennett, Mark F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Austin Hlth, Heidelberg, Vic, Australia
Walter & Eliza Hall Inst Med Res, Melbourne, Vic, Australia
Univ Melbourne, Dept Med Biol, Melbourne, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

论文数: 引用数:
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McMahon, Jacinta
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Austin Hlth, Heidelberg, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Andreopoulos-Malikotsinas, Danae
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Austin Hlth, Heidelberg, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Bahlo, Melanie
论文数: 0 引用数: 0
h-index: 0
机构:
Walter & Eliza Hall Inst Med Res, Melbourne, Vic, Australia
Univ Melbourne, Dept Med Biol, Melbourne, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Howell, Katherine B.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp, Melbourne, Vic, Australia
Murdoch Childrens Res Inst, Parkville, Vic, Australia
Univ Melbourne, Dept Pediat, Melbourne, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Hildebrand, Michael S.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Austin Hlth, Heidelberg, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Damiano, John A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Austin Hlth, Heidelberg, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Rosenfeld, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Austin Hlth, Heidelberg, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Mackay, Mark T.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp, Melbourne, Vic, Australia
Murdoch Childrens Res Inst, Parkville, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

论文数: 引用数:
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Leventer, Richard J.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp, Melbourne, Vic, Australia
Murdoch Childrens Res Inst, Parkville, Vic, Australia
Univ Melbourne, Dept Pediat, Melbourne, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Harvey, A. Simon
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp, Melbourne, Vic, Australia
Murdoch Childrens Res Inst, Parkville, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Freeman, Jeremy L.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Childrens Hosp, Melbourne, Vic, Australia
Murdoch Childrens Res Inst, Parkville, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Scheffer, Ingrid E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Austin Hlth, Heidelberg, Vic, Australia
Royal Childrens Hosp, Melbourne, Vic, Australia
Murdoch Childrens Res Inst, Parkville, Vic, Australia
Univ Melbourne, Dept Pediat, Melbourne, Vic, Australia
Florey Inst Neurosci & Mental Hlth, Parkville, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Jones, Dean L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tasmania, Sch Med, Hobart, Tas, Australia
Royal Hobart Hosp, Dept Neurol, Hobart, Tas, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia

Berkovic, Samuel F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Melbourne, Dept Med, Austin Hlth, Heidelberg, Vic, Australia Royal Hobart Hosp, Dept Paediat, Liverpool St, Hobart, Tas 7000, Australia