Lv21
104 积分 2023-08-29 加入
Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene
8天前
已完结
Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome
13天前
已完结
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study
13天前
已完结
Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the NR5A1/SF-1 Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred
13天前
已完结
Utility of genetic work-up for 46, XY patients with severe hypospadias
13天前
已完结
Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes
13天前
已完结
The clinical and molecular spectrum of androgen insensitivity syndromes
13天前
已完结
Clinical and molecular characteristics in 15 patients with androgen receptor gene mutations from South China
14天前
已完结
Genetic Basis of Childhood Cardiomyopathy
14天前
已完结
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
18天前
已完结
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