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Jia Li
Jia Li
University of Lausanne
Metacarpal bones
Compound heterozygosity
Exome sequencing
Immunology
Medicine
3
Papers
24
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Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease
2016
Arthritis & Rheumatism
Luisa Bonafé
Ariana Kariminejad
Jia Li
Beryl Royer-Bertrand
Virginie Garcia
Shokouholsadat Mahdavi
Bita Bozorgmehr
Ralph L. Lachman
Lauréane Mittaz-Crettol
Belinda Campos-Xavier
Sheela Nampoothiri
Sheila Unger
Carlo Rivolta
Thierry Levade
Andrea Superti Furga
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Citations (10)
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease
2016
Arthritis & Rheumatism
Luisa Bonafé
Ariana Kariminejad
Jia Li
Beryl Royer-Bertrand
Virginie Garcia
Shokouholsadat Mahdavi
Bita Bozorgmehr
Ralph L. Lachman
Lauréane Mittaz-Crettol
Belinda Campos-Xavier
Sheela Nampoothiri
Sheila Unger
Carlo Rivolta
Thierry Levade
Andrea Superti Furga
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Citations (14)
Identification of a novel mutation in the mevalonate kinase gene associated with retinitis pigmentosa
2015
Investigative Ophthalmology & Visual Science
Jia Li
Beryl Royer-Bertrand
Konstantinos Nikopoulos
Almudena Avila-Fernandez
Marta Corton
Rocio Sanchez-Alcudia
Carmen Ayuso
Carlo Rivolta
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