Lv12
76 积分 2024-08-12 加入
Targeted gene panel sequencing for molecular diagnosis of congenital adrenal hyperplasia
1天前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
13天前
已完结
From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia
16天前
已完结
Pharmacogenomics of diuretic drugs: data on rare monogenic disorders and on polymorphisms and requirements for further research
16天前
已完结
Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population
17天前
已完结
Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays
17天前
已完结
FSIP2plays a role in the acrosome development during spermiogenesis
20天前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
21天前
已完结
Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect
22天前
已完结
Approaches for diagnosis and treatment in neurotransmitter disorders of childhood
29天前
已完结
皖公网安备34019202002308
