Lv12
40 积分 2023-12-27 加入
Prenatal exome sequencing in fetuses with callosal anomalies
3小时前
已完结
46,XY disorders of sex development: the use of NGS for prevalent variants
23小时前
已完结
Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients
1天前
已完结
Four new mutations in the NADH-cytochrome b5 reductase gene from patients with recessive congenital methemoglobinemia type II
7天前
已完结
A single NGS‐based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing
7天前
已完结
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile
7天前
已完结
Analysis of Sanfilippo A gene mutations in a large pedigree
8天前
已完结
Megalencephalic leukoencephalopathy with subcortical cysts without macrocephaly: A case study of comorbid Turner’s syndrome
21天前
已完结
The odyssey of complex neurogenetic disorders: From undetermined to positive
21天前
已完结
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families
21天前
已关闭
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