Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK14_het
Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.
Gezgin Y et al.
Turkish Journal of Medical Sciences, 2024
Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies.
Vintschger E et al.
European Journal of Human Genetics : Ejhg, 2023
36550190 (PubMed )
Supplement: 41431_2022_1267_MOESM2_ESM.xlsx › VUS_2018_2020
Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease.
Alehabib E et al.
Nephrology (carlton, Vic.), 2017
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