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98 积分 2022-11-17 加入
MULTIPLE NEW ONSET AUTOIMMUNE MANIFESTATIONS IN PEDIATRIC PATIENT WITH STAT1 GAIN-OF-FUNCTION
2天前
已完结
NAVIGATING PJP PROPHYLAXIS FOR A FOXN1 HAPLOINSUFFICIENT PATIENT WITH G6PD DEFICIENCY
2天前
已关闭
A NOVEL RAG1 VARIANT RESULTING IN ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY
2天前
已关闭
Multigene Detection Analysis of Multifocal Papillary Thyroid Carcinoma
7天前
已完结
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia
14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
14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
23天前
已关闭
Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China
26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
28天前
已完结
Analyses of rare predisposing variants of lung cancer in 6,004 whole genomes in Chinese
1个月前
已完结
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