Lv4
440 积分 2024-12-05 加入
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases
3天前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
3天前
已完结
Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome
23天前
已完结
Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta
30天前
已完结
Genotype–phenotype relations for episodic ataxia genes: MDSGene systematic review
1个月前
已完结
A novel frameshift variant of LMX1A that leads to autosomal dominant non-syndromic sensorineural hearing loss: functional characterization of the C-terminal domain in LMX1A
1个月前
已完结
Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
1个月前
已完结
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
2个月前
已完结
SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia
3个月前
已完结
[Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies]
3个月前
已关闭
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