Associated Papers
Analysis of PDE6G mutations in a patient with retinitis pigmentosa.
Liu X et al.
Bmc Ophthalmology, 2024
Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.
Abu Elasal M et al.
Genes, 2024
39062705 (PubMed )
Supplement: genes-15-00926-s001.zip › Table_S1-revision.xlsx › Tabble_S1
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Panneman DM et al.
Frontiers in Cell and Developmental Biology, 2023
36819107 (PubMed )
Supplement: Table4.xlsx › Results
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Arabs_not_Negev_Bedouins_
Detection of novel genetic variation in autosomal dominant retinitis pigmentosa.
Borràs E et al.
Clinical Genetics, 2013
Autosomal-recessive early-onset retinitis pigmentosa caused by a mutation in PDE6G, the gene encoding the gamma subunit of rod cGMP phosphodiesterase.
Dvir L et al.
American Journal of Human Genetics, 2010
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