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Abramowicz, Marc
Abramowicz, Marc
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2021
Scientific Articles
unige:154577
Benefits of exome sequencing in children with suspected isolated hearing loss
Van Heurck, Roxane
;
Carminho Amaro Rodrigues, Maria Teresa
;
Ranza, Emmanuelle Nathalie
; Stafuzza, Caterina; ...
Giacobino, Ariane
unige:159455
Bi-allelic loss of
ERGIC1
causes relatively mild arthrogryposis
Marconi, Caroline Baya Catherine
;
Lemmens, Laure
;
Masclaux, Frédéric
; Mattioli, Francesca; ...
Fokstuen, Siv
unige:148701
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients
Laurent, Sacha
;
Gehrig, Corinne
;
Nouspikel, Thierry
; Amr, Sami S; ...
Guipponi, Michel
2020
Scientific Articles
unige:137333
LARS2-Perrault syndrome: a new case report and literature review
Carminho Amaro Rodrigues, Maria Teresa
;
Klee, Philippe
;
Laurent, Sacha
;
Guipponi, Michel
; ...
Giacobino, Ariane
2019
Professional Articles
unige:137972
Génétique des troubles auditifs chez l'enfant
Giacobino, Ariane
;
Ranza, Emmanuelle Nathalie
;
Abramowicz, Marc
;
Senn, Pascal
;
Cao Van, Hélène
2018
Professional Articles
unige:126802
Handicap intellectuel : apport de la génétique pour le diagnostic étiologique
Jouan, Chrystel
;
Kosel, Markus Mathaus
;
Abramowicz, Marc
;
Giacobino, Ariane
;
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