J.L. Dufier

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

Jean‐Michel Rozet, S. Gerber, Imad Ghazi et al. · Journal of Medical Genetics · 1999 · 97 citations

Ocular manifestations in Fabry disease: a survey of 32 hemizygous male patients

Christophe Orssaud, J.L. Dufier, Dominique P. Germain · Ophthalmic Genetics · 2003 · 96 citations

Ocular changes in long-term evolution of infantile cystinosis

J.L. Dufier, P Dhermy, Marie-Claire Gübler et al. · Ophthalmic Paediatrics and Genetics · 1987 · 61 citations

Ophthalmology, Corneal Dystrophy, Topic Cysteamine +9

CONGENITAL TOXOPLASMOSIS ACQUIRED FROM AN IMMUNE WOMAN

Christophe Hennequin, P. Dureau, Lillian Nguyen et al. · The Pediatric Infectious Disease Journal · 1997 · 58 citations

Maternal Immunization, Immunoglobulin Assays, Parasitic Disease +13

Secondary creatine deficiency in ornithine delta-aminotransferase deficiency

Vassili Valayannopoulos, Nathalie Boddaert, Karine Mention et al. · Molecular Genetics and Metabolism · 2009 · 48 citations

Renal Function, Genetics, Physiology +4