Associated Papers
Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
Kulyamzin S et al.
Genes, 2025
40725402 (PubMed )
Supplement: genes-16-00745-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.
Chattannavar G et al.
Ophthalmic Genetics, 2024
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 › Negev_Bedouins
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
Zhang Q et al.
The Journal of Biological Chemistry, 2012
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.pdf
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.
Héon E et al.
American Journal of Medical Genetics. Part A, 2005
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Mykytyn K et al.
Nature Genetics, 2001
Select a paper to view details