Lv31
292 积分 2024-08-06 加入
Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia
5小时前
待确认
Utility of genetic testing in children with leukodystrophy
8小时前
已完结
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients
12天前
已关闭
Genetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy
25天前
已完结
MECP2 mutation in male patients with non‐specific X‐linked mental retardation
26天前
已完结
Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy
1个月前
已完结
Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project*
1个月前
已完结
The clinical and molecular spectrum of androgen insensitivity syndromes
1个月前
已完结
46,XY disorders of sex development: the use of NGS for prevalent variants
1个月前
已完结
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
1个月前
已完结
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