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Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|August 30, 2012
Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuriaLeah R Fuchs, Matthieu Robert, Isabelle Ingster-Moati, et al.
Acta Ophthalmologica Scandinavica|September 13, 2006
Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndromeFrançois Audren, Olivia Abitbol, Pascal Dureau, et al.
European Journal of Pediatrics|November 2, 2004
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and prolineMatthias R Baumgartner, Daniel Rabier, Marie-Cécile Nassogne, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|August 30, 2012
Asymptomatic atrophy of the temporal median raphe of the retina associated with cerebral vasculopathy in homozygous sickle cell diseaseMatthieu P Robert, Isabelle Ingster-Moati, Olivier Roche, et al.
Human Mutation|November 25, 2003
NDP gene mutations in 14 French families with Norrie diseaseGhislaine Royer, Sylvain Hanein, Valérie Raclin, et al.
American Journal of Human Genetics|August 24, 2004
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosisIsabelle Perrault, Sylvain Hanein, Sylvie Gerber, et al.
Human Mutation|January 12, 2005
A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotypeIsabelle Perrault, Sylvain Hanein, Sylvie Gerber, et al.
Human Mutation|November 15, 2007
Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type IISylvie Gerber, Sylvain Hanein, Isabelle Perrault, et al.
European Journal of Human Genetics : EJHG|September 26, 2003
A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8qFabienne Barbet, Sylvie Gerber, Sélim Hakiki, et al.
American Journal of Medical Genetics. Part A|May 31, 2013
Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen typeFlore Zufferey, Smaïl Hadj-Rabia, Annachiara De Sandre-Giovannoli, et al.
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