Laurent, Sacha

 
 
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2021

Scientific Articles

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Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposisMarconi, Caroline Baya Catherine; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; ... Fokstuen, Siv
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Molecular characterization of pathogenic OTOA gene conversions in hearing loss patientsLaurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S; ... Guipponi, Michel

2020

Scientific Articles

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Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome)Carminho Amaro Rodrigues, Maria Teresa; Steel, Dora; Sousa, Sergio B; Brandt, Gregor; ... Bally, Julien
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LARS2-Perrault syndrome: a new case report and literature reviewCarminho Amaro Rodrigues, Maria Teresa; Klee, Philippe; Laurent, Sacha; Guipponi, Michel; ... Giacobino, Ariane
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MCF2 is linked to a complex perisylvian syndrome and affects cortical laminationMolinard-Chenu, Aude; Fluss, Joël Victor; Laurent, Sacha; Laurent, Meryle; ... Dayer, Alexandre
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