Lv2
130 积分 2025-04-16 加入
High cumulative risk of colorectal cancers and desmoid tumours and fibromatosis in South Asian APC mutation carriers
3天前
已完结
MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION
1个月前
已关闭
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease
3个月前
已完结
Epilepsy in patients with duplications of chromosome 14 harboring FOXG1
3个月前
已完结
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
5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
6个月前
已完结
5p13 microduplication in a malformed fetus and his unaffected father
8个月前
已完结
New cases and refinement of the critical region in the 1q41q42 microdeletion syndrome
9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
10个月前
已完结
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