Abramowicz, Marc

 
 
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2021

Scientific Articles

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Benefits of exome sequencing in children with suspected isolated hearing lossVan Heurck, Roxane; Carminho Amaro Rodrigues, Maria Teresa; Ranza, Emmanuelle Nathalie; Stafuzza, Caterina; ... Giacobino, Ariane
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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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LARS2-Perrault syndrome: a new case report and literature reviewCarminho Amaro Rodrigues, Maria Teresa; Klee, Philippe; Laurent, Sacha; Guipponi, Michel; ... Giacobino, Ariane

2019

Professional Articles

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Génétique des troubles auditifs chez l'enfantGiacobino, Ariane; Ranza, Emmanuelle Nathalie; Abramowicz, Marc; Senn, Pascal; Cao Van, Hélène

2018

Professional Articles

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Handicap intellectuel : apport de la génétique pour le diagnostic étiologiqueJouan, Chrystel; Kosel, Markus Mathaus; Abramowicz, Marc; Giacobino, Ariane;
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