共 113 条
[11]
Clinical and biochemical footprints of inherited metabolic diseases. IX. Metabolic ear disease
[J].
Bakhos, David
;
Blasco, Helene
;
Galvin III, John J.
;
Ferreira, Carlos R.
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Blau, Nenad
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MOLECULAR GENETICS AND METABOLISM,
2022, 137 (03)
:223-229

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Galvin III, John J.
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Tours, Serv ORL & Chirurg Cerv Faciale, Blvd Tonnelle, F-37044 Tours, France
Univ Tours, France INSERM, U1253, Tours, France
House Inst Fdn, Los Angeles, CA USA CHRU Tours, Serv ORL & Chirurg Cerv Faciale, Blvd Tonnelle, F-37044 Tours, France

Ferreira, Carlos R.
论文数: 0 引用数: 0
h-index: 0
机构:
NHGRI, NIH, Bethesda, MD USA CHRU Tours, Serv ORL & Chirurg Cerv Faciale, Blvd Tonnelle, F-37044 Tours, France

Blau, Nenad
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp, Div Metab, Zurich, Switzerland
Univ Childrens Hosp Zurich, Div Metab, Steinwiesstr 75, CH-8032 Zurich, Switzerland CHRU Tours, Serv ORL & Chirurg Cerv Faciale, Blvd Tonnelle, F-37044 Tours, France
[12]
Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease
[J].
Baumner, Soren
;
Weber, Lutz T.
.
FRONTIERS IN PEDIATRICS,
2018, 6

Baumner, Soren
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Cologne, Childrens & Adolescents Hosp, Pediat Nephrol, Cologne, Germany Univ Hosp Cologne, Childrens & Adolescents Hosp, Pediat Nephrol, Cologne, Germany

Weber, Lutz T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Cologne, Childrens & Adolescents Hosp, Pediat Nephrol, Cologne, Germany Univ Hosp Cologne, Childrens & Adolescents Hosp, Pediat Nephrol, Cologne, Germany
[13]
Global, regional, and national burden of chronic kidney disease, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017
[J].
Bikbov, Boris
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Purcell, Carrie
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Levey, Andrew S.
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Smith, Mari
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Abdoli, Amir
;
Abebe, Molla
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Adebayo, Oladimeji M.
;
Afarideh, Mohsen
;
Agarwal, Sanjay Kumar
;
Agudelo-Botero, Marcela
;
Ahmadian, Elham
;
Al-Aly, Ziyad
;
Alipour, Vahid
;
Almasi-Hashiani, Amir
;
Al-Raddadi, Rajaa M.
;
Alvis-Guzman, Nelson
;
Amini, Saeed
;
Andrei, Tudorel
;
Andrei, Catalina Liliana
;
Andualem, Zewudu
;
Anjomshoa, Mina
;
Arabloo, Jalal
;
Ashagre, Alebachew Fasil
;
Asmelash, Daniel
;
Ataro, Zerihun
;
Atout, Maha Moh'd Wahbi
;
Ayanore, Martin Amogre
;
Badawi, Alaa
;
Bakhtiari, Ahad
;
Ballew, Shoshana H.
;
Balouchi, Abbas
;
Banach, Maciej
;
Barquera, Simon
;
Basu, Sanjay
;
Bayih, Mulat Tirfie
;
Bedi, Neeraj
;
Bello, Aminu K.
;
Bensenor, Isabela M.
;
Bijani, Ali
;
Boloor, Archith
;
Borzi, Antonio M.
;
Camera, Luis Alberto
;
Carrero, Juan J.
;
Carvalho, Felix
;
Castro, Franz
;
Catala-Lopez, Ferran
;
Chang, Alex R.
;
Chin, Ken Lee
;
Chung, Sheng-Chia
;
Cirillo, Massimo
.
LANCET,
2020, 395 (10225)
:709-733

Bikbov, Boris
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Purcell, Carrie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Inst Hlth Metr & Evaluat, Seattle, WA USA IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Levey, Andrew S.
论文数: 0 引用数: 0
h-index: 0
机构:
Tufts Med Ctr, Div Nephrol, Boston, MA 02111 USA
Tufts Univ, Sch Med, Boston, MA 02111 USA IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Smith, Mari
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Sch Med, Inst Hlth Metr & Evaluat, Seattle, WA USA IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

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Abebe, Molla
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gondar, Dept Clin Chem, Gondar, Ethiopia IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Adebayo, Oladimeji M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Coll Hosp, Dept Med, Ibadan, Nigeria IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Afarideh, Mohsen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tehran Med Sci, Endocrinol & Metab Res Ctr, Tehran, Iran IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Agarwal, Sanjay Kumar
论文数: 0 引用数: 0
h-index: 0
机构:
All India Inst Med Sci, Dept Nephrol, New Delhi, India IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Agudelo-Botero, Marcela
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nacl Autonoma Mexico, Sch Med, Ctr Polit Populat & Hlth Res, Mexico City, DF, Mexico IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

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Al-Aly, Ziyad
论文数: 0 引用数: 0
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机构:
Washington Univ, John T Milliken Dept Internal Med, St Louis, MO 63110 USA
US Dept Vet Affairs, VA St Louis Hlth Care Syst, Clin Epidemiol Ctr, St Louis, MO USA IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Alipour, Vahid
论文数: 0 引用数: 0
h-index: 0
机构:
Iran Univ Med Sci, Hlth Management & Econ Res Ctr, Tehran, Iran
Iran Univ Med Sci, Hlth Econ Dept, Tehran, Iran IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Almasi-Hashiani, Amir
论文数: 0 引用数: 0
h-index: 0
机构:
Arak Univ Med Sci, Dept Epidemiol, Arak, Iran IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Al-Raddadi, Rajaa M.
论文数: 0 引用数: 0
h-index: 0
机构:
King Abdulaziz Univ, Dept Family & Community Med, Jeddah, Saudi Arabia IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Alvis-Guzman, Nelson
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cartagena, Hlth Econ Res Grp, Cartagena, Colombia
Univ Coast, Res Grp Hosp Management & Hlth Policies, Barranquilla, Colombia IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

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Andrei, Tudorel
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机构:
Bucharest Univ Econ Studies, Dept Stat & Econometr, Bucharest, Romania IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Andrei, Catalina Liliana
论文数: 0 引用数: 0
h-index: 0
机构:
Carol Davila Univ Med & Pharm, Bucharest, Romania IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Andualem, Zewudu
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gondar, Environm & Occupat Hlth & Safety Dept, Gondar, Ethiopia IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Anjomshoa, Mina
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机构:
Rafsanjan Univ Med Sci, Social Determinants Hlth Res Ctr, Rafsanjan, Iran IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Arabloo, Jalal
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Iran Univ Med Sci, Hlth Management & Econ Res Ctr, Tehran, Iran IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Ashagre, Alebachew Fasil
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gondar, Dept Clin Chem, Gondar, Ethiopia IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Asmelash, Daniel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Gondar, Dept Clin Chem, Gondar, Ethiopia IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Ataro, Zerihun
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Atout, Maha Moh'd Wahbi
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Ayanore, Martin Amogre
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Badawi, Alaa
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

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Ballew, Shoshana H.
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

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Banach, Maciej
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Barquera, Simon
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Basu, Sanjay
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

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Bedi, Neeraj
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Bello, Aminu K.
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Bensenor, Isabela M.
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Bijani, Ali
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Boloor, Archith
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Borzi, Antonio M.
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Camera, Luis Alberto
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Carrero, Juan J.
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Carvalho, Felix
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Castro, Franz
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Catala-Lopez, Ferran
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Chang, Alex R.
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Chin, Ken Lee
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Chung, Sheng-Chia
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy

Cirillo, Massimo
论文数: 0 引用数: 0
h-index: 0
机构:
IRCCS, Ist Ric Farmacol Mario Negri, Ranica, Italy
[14]
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
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Braverman, Nancy E.
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Raymond, Gerald V.
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Rizzo, William B.
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Moser, Ann B.
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Wilkinson, Mark E.
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Stone, Edwin M.
;
Steinberg, Steven J.
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Wangler, Michael F.
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Rush, Eric T.
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Hacia, Joseph G.
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Bose, Mousumi
.
MOLECULAR GENETICS AND METABOLISM,
2016, 117 (03)
:313-321

Braverman, Nancy E.
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h-index: 0
机构:
McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada

Raymond, Gerald V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Minnesota, Dept Neurol, 516 Delaware St SE, Minneapolis, MN 55455 USA McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada

Rizzo, William B.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nebraska Med Ctr, Dept Pediat, 985456 Nebraska Med Ctr MMI 3062, Omaha, NE 68198 USA McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada

Moser, Ann B.
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h-index: 0
机构:
Hugo W Moser Res Inst Kennedy Krieger, 707 N Broadway, Baltimore, MD 21205 USA McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada

Wilkinson, Mark E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Iowa, Stephen A Wynn Inst Vis Res, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada

Stone, Edwin M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Iowa, Stephen A Wynn Inst Vis Res, Dept Ophthalmol & Visual Sci, Carver Coll Med, 200 Hawkins Dr, Iowa City, IA 52242 USA McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada

Steinberg, Steven J.
论文数: 0 引用数: 0
h-index: 0
机构:
Johns Hopkins Univ, Inst Med Genet, Sch Med, CMSC1004B,600 N Wolfe St, Baltimore, MD 21287 USA
Johns Hopkins Univ, Dept Neurol, Sch Med, CMSC1004B,600 N Wolfe St, Baltimore, MD 21287 USA McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada

Wangler, Michael F.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Duncan Neurol Res Inst, DNRI-1050, Houston, TX 77030 USA McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada

Rush, Eric T.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nebraska Med Ctr, Munroe Meyer Inst Genet & Rehabil, 985440 Nebraska Med Ctr, Omaha, NE 68198 USA McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada

Hacia, Joseph G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ So Calif, Dept Biochem & Mol Biol, 1975 Zonal Ave, Los Angeles, CA 90033 USA McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada

Bose, Mousumi
论文数: 0 引用数: 0
h-index: 0
机构:
Global Fdn Peroxisomal Disorders, 5147 S Harvard Ave,Suite 181, Tulsa, OK 74135 USA McGill Univ, Ctr Hlth, 1001 Decade Blvd Block E,EM02230, Montreal, PQ H4A3J1, Canada
[15]
Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease
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Broomfield, Alexander
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Sweeney, Mary G.
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Woodward, Cathy E.
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Fratter, Carl
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Morris, Andrew M.
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Leonard, James V.
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Abulhoul, Lara
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Grunewald, Stephanie
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Clayton, Peter T.
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Hanna, Michael G.
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Poulton, Joanna
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Rahman, Shamima
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JOURNAL OF INHERITED METABOLIC DISEASE,
2015, 38 (03)
:445-457

Broomfield, Alexander
论文数: 0 引用数: 0
h-index: 0
机构:
Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England

Sweeney, Mary G.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol & Neurosurg, Neurogenet Unit, London WC1N 3BG, England Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England

Woodward, Cathy E.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Hosp Neurol & Neurosurg, Neurogenet Unit, London WC1N 3BG, England Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England

Fratter, Carl
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Hosp NHS Trust, Churchill Hosp, Oxford Med Genet Labs, Oxford OX3 7LE, England Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England

Morris, Andrew M.
论文数: 0 引用数: 0
h-index: 0
机构:
Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England

Leonard, James V.
论文数: 0 引用数: 0
h-index: 0
机构: Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England

Abulhoul, Lara
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp NHS Fdn Trust, Inst Child Hlth, Metab Unit, London WC1N 3JH, England Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England

Grunewald, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp NHS Fdn Trust, Inst Child Hlth, Metab Unit, London WC1N 3JH, England
UCL Inst Child Hlth, Genet & Genom Med, London WC1N 1EH, England Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England

Clayton, Peter T.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Child Hlth, Genet & Genom Med, London WC1N 1EH, England Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England

Hanna, Michael G.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Neurol, MRC, Ctr Neuromuscular Dis, London WC1N 3BG, England
Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England

Poulton, Joanna
论文数: 0 引用数: 0
h-index: 0
机构:
John Radcliffe Hosp, Womens Ctr, NDOG, Oxford OX3 9DU, Oxon, England Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England

Rahman, Shamima
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp NHS Fdn Trust, Inst Child Hlth, Metab Unit, London WC1N 3JH, England
UCL Inst Child Hlth, Genet & Genom Med, London WC1N 1EH, England
UCL Inst Child Hlth, Mitochondrial Res Grp, Genet & Genom Med, London WC1N 3JH, England Cent Manchester Univ, Hosp NHS Fdn trust, St Marys Hosp, Genet Med, Manchester M13 9WL, Lancs, England
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Vici syndrome: a review
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Byrne, Susan
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Dionisi-Vici, Carlo
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Smith, Luke
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Gautel, Mathias
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Jungbluth, Heinz
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ORPHANET JOURNAL OF RARE DISEASES,
2016, 11

Byrne, Susan
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Dionisi-Vici, Carlo
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Childrens Hosp IRCCS, Div Metab & Lab Mol Med, Rome, Italy Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Smith, Luke
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Muscle Signalling Sect, Randall Div Cell & Mol Biophys, London WC2R 2LS, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Gautel, Mathias
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll London, Muscle Signalling Sect, Randall Div Cell & Mol Biophys, London WC2R 2LS, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Jungbluth, Heinz
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England
Kings Coll London, Muscle Signalling Sect, Randall Div Cell & Mol Biophys, London WC2R 2LS, England
Kings Coll London, IoPPN, Dept Clin & Basic Neurosci, London WC2R 2LS, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England
[17]
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature
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Canueto, J.
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Giros, M.
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Ciria, S.
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Pi-Castan, G.
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Artigas, M.
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Garcia-Dorado, J.
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Garcia-Patos, V.
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Viros, A.
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Vendrell, T.
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Torrelo, A.
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Hernandez-Martin, A.
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Martin-Hernandez, E.
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Garcia-Silva, M. T.
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Fernandez-Burriel, M.
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Rosell, J.
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Tejedor, M.
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Martinez, F.
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