Lv21
130 积分 2025-04-16 加入
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
1个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
2个月前
已完结
5p13 microduplication in a malformed fetus and his unaffected father
4个月前
已完结
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome
5个月前
已完结
Only two amino acid substitutions of I236N and V237E in exon 6 are converted to the CYP21 gene in a Chinese patient with congenital adrenal hyperplasia
6个月前
已完结
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