|
|
Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management
Béatrice Bocquet
,
Annie Lacroux
,
Marie-Odile Surget
,
Corinne Baudoin
,
Virginie Marquette
et al.
Journal articles
hal-02446185v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype
Isabelle Perrault
,
Jan Halbritter
,
Jonathan D. Porath
,
Xavier Gerard
,
Daniela A. Braun
et al.
Journal articles
pasteur-01301204v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy
Sylvie Gerber
,
Christophe Orssaud
,
Josseline Kaplan
,
Catrine Johansson
,
Jean-Michel Rozet
et al.
Journal articles
hal-03247014v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Congenital Microcoria: Clinical Features and Molecular Genetics
Clémentine Angée
,
Brigitte Nedelec
,
Elisa Erjavec
,
Jean-Michel Rozet
,
Lucas Fares Taie
et al.
Journal articles
hal-03239240v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Incomplete penetrance of biallelic ALDH1A3 mutations
Julie Plaisancié
,
Dominique Brémond-Gignac
,
Bénédicte Demeer
,
Véronique Gaston
,
Alain Verloes
et al.
Journal articles
hal-03159189v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Bertrand Chesneau
,
Marion Aubert-Mucca
,
Felix Fremont
,
Jacmine Pechmeja
,
Vincent Soler
et al.
Journal articles
hal-03610074v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|