Associated Papers
Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.
Awad F et al.
Frontiers in Reproductive Health, 2025
41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_2
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table4.xlsx › sheet1
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ et al.
European Journal of Human Genetics : Ejhg, 2024
38778082 (PubMed )
Supplement: 41431_2024_1629_MOESM2_ESM.xlsx › A-III-4
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