Associated Papers
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.
Marinakis NM et al.
Clinical Genetics, 2026
40550703 (PubMed )
Supplement: CGE-109-176-s001.xlsx › Transcripts
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 › IPK1_het
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Castilla-Vallmanya L et al.
International Journal of Molecular Sciences, 2021
33557041 (PubMed )
Supplement: ijms-22-01549-s001.zip › Suppl_Files › Suppl_Table1_Patient_1_Variants.xlsx › Sheet1
From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene.
Kherraf ZE et al.
Asian Journal of Andrology, 0
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