Associated Papers
Exploring the role of non-canonical splice site variants in aberrant splicing associated with reproductive genetic disorders.
Zhou L et al.
Clinical Genetics, 2024
The Molecular Basis of 5α-Reductase Type 2 Deficiency.
Batista RL et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
Genotype-phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey.
Abacı A et al.
Journal of Endocrinological Investigation, 2019
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).
Hughes LA et al.
Endocrine Connections, 2019
Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development.
Nixon R et al.
Human Reproduction (oxford, England), 2017
Select a paper to view details