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98 积分 2022-11-17 加入
Multigene Detection Analysis of Multifocal Papillary Thyroid Carcinoma
1天前
已完结
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia
9天前
已完结
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
9天前
已关闭
Spermatogenic phenotype of testis-specific protein, Y-encoded, 1 (TSPY1) dosage deficiency is independent of variations in TSPY-like 1 (TSPYL1) and TSPY-like 5 (TSPYL5): a case-control study in a Han Chinese population
18天前
已关闭
Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China
21天前
已完结
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population
23天前
已完结
Analyses of rare predisposing variants of lung cancer in 6,004 whole genomes in Chinese
28天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Optical Coherence Tomography Angiography in Familial Exudative Vitreoretinopathy: Clinical Features and Phenotype-Genotype Correlation
1个月前
已关闭
Genotype spectrum of ornithine transcarbamylase deficiency: Correlation with the clinical and biochemical phenotype
1个月前
已关闭
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