Lv1
60 积分 2025-04-02 加入
De novo 1q32q44 duplication and distal 1q trisomy syndrome
12小时前
待确认
The Molecular Basis of Familial Hemolytic Uremic Syndrome
14小时前
求助中
Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype
2天前
已完结
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
17天前
已完结
[Analysis of IVD gene variants in four children with isovalerate acidemia]
17天前
已完结
A Novel Variant c. 149G >A in CDK5 Gene Causing Lissencephaly Type 7
1个月前
已完结
Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome
1个月前
已完结
Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome
2个月前
已完结
A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard–Soulier syndrome
2个月前
已完结
[Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency]
2个月前
已完结
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