Associated Papers
Neonatal Hydrocolpos in Bardet-Biedl Syndrome due to a Novel Frameshift Indel in the BBS10 Gene.
Palma Sircili MH et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2024
Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.
Rao AR et al.
Genes, 2023
Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.
Zamani M et al.
Molecular Genetics and Genomics : Mgg, 2022
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Maltese PE et al.
Frontiers in Genetics, 2022
35836572 (PubMed )
Supplement: Table1.xlsx › Table_S4_Europe
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Ullah A et al.
Molecular Vision, 2017
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
[Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms].
Hjortshøj TD et al.
Ugeskrift for Laeger, 2005
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
Schaefer E et al.
European Journal of Medical Genetics, 0
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