Associated Papers
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies.
Bouzidi A et al.
Orphanet Journal of Rare Diseases, 2022
35551639 (PubMed )
Supplement: 13023_2022_2340_MOESM2_ESM.xlsx › Feuil_1
Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.
Sharon D et al.
Progress in Retinal and Eye Research, 2018
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
27175728 (PubMed )
Supplement: 12920_2016_184_MOESM1_ESM.xls › S1
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.
Romdhane L et al.
Orphanet Journal of Rare Diseases, 2012
22908982 (PubMed )
Supplement: 1750-1172-7-52-S3.xlsx › Feuil1
Leber congenital amaurosis: survey of the genetic heterogeneity, refinement of the clinical definition and phenotype-genotype correlations as a strategy for molecular diagnosis. Clinical and molecular survey in LCA.
Hanein S et al.
Advances in Experimental Medicine and Biology, 2006
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Hanein S et al.
Human Mutation, 2004
Spectrum of retGC1 mutations in Leber's congenital amaurosis.
Perrault I et al.
European Journal of Human Genetics : Ejhg, 2000
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