Associated Papers
Missense variants weakening a SOX9 phosphodegron linked to odontogenesis defects, scoliosis, and other skeletal features.
Ettaki I et al.
Hgg Advances, 2025
39797402 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.
Al Sayed Y et al.
European Journal of Human Genetics : Ejhg, 2023
Whole exome data prioritization unveils the hidden weight of Mendelian causes of male infertility. A report from the first Italian cohort.
Quarantani G et al.
Plos One, 2023
37540677 (PubMed )
Supplement: pone.0288336.s005.xlsx › Supplementary_Table_IV
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
Brauner R et al.
Plos One, 2020
Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.
Flück CE et al.
Frontiers in Genetics, 2019
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