Lv3
232 积分 2023-07-21 加入
Clinical and molecular characterization of a family affected with X-linked ocular albinism(OA1)
9天前
已完结
Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome
11天前
已完结
Estimating the Prevalence of LAMA2 Congenital Muscular Dystrophy using Population Genetic Databases
12天前
已完结
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis
15天前
已完结
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis
15天前
已完结
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
16天前
已完结
Congenital adrenal hyperplasia
16天前
已完结
Images: Atypical resolution of sleep-related hypoventilation in congenital central hypoventilation syndrome
18天前
已关闭
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia
23天前
已完结
Gene-knockout by iSTOP enables rapid reproductive disease modeling and phenotyping in germ cells of the founder generation
26天前
已完结
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