Lv43
590 积分 2022-05-13 加入
Dissecting the transcriptional program of phosphomannomutase 2-deficient cells: Lymphoblastoide B cell lines as a valuable model for congenital disorders of glycosylation studies
7天前
已完结
Long-term clinical and MRI follow-up in two POMT2-related limb girdle muscular dystrophy (LGMDR14) patients
16天前
已完结
Trisomy 5p: Long Recognized, Rarely Published- Three New Cases and Review of the Literature
21天前
已完结
Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China
29天前
已完结
Clinical and molecular characteristics of autosomal recessive congenital ichthyosis in Thailand
29天前
已完结
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
1个月前
已完结
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum
1个月前
已关闭
Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children
1个月前
已关闭
Clinical, Biochemical, and Molecular Characterization of Indian Children with Clinically Suspected Androgen Insensitivity Syndrome
1个月前
已关闭
Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families
1个月前
已完结
皖公网安备34019202002308
