Associated Papers
Functional and clinical insights into nuclear receptor variants for advancing precision diagnostics in male infertility.
Gaikwad AS et al.
Ebiomedicine, 2025
Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome.
Hage M et al.
Andrologia, 2021
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Montenegro LR et al.
Clinics (sao Paulo, Brazil), 2021
Promoter-dependent activity on androgen receptor N-terminal domain mutations in androgen insensitivity syndrome.
Tadokoro-Cuccaro R et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2014
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
Matsumoto N et al.
European Journal of Human Genetics : Ejhg, 2001
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