Lv51
1148 积分 2025-01-14 加入
Diverse Clinical Presentation of RAC1‐Related Intellectual Developmental Disorder
1小时前
求助中
PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
4天前
已完结
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency
4天前
已完结
Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency
4天前
已完结
Homozygous Variant in KASH5 Causes Premature Ovarian Insufficiency by Disordered Meiotic Homologous Pairing
1个月前
已完结
β-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities
1个月前
已完结
Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients
1个月前
已完结
Implications of Genetic Testing in Dilated Cardiomyopathy
1个月前
已关闭
A novel case of Al Kaissi syndrome in a 4-year-old boy: increasing significance of hydrocephalus and extending the phenotype
1个月前
已完结
Molecular basis of neurodevelopmental disorders caused by pathogenic variants of PIDD
1个月前
已完结
皖公网安备34019202002308
