Lv3
248 积分 2025-01-19 加入
Prenatal diagnosis of a familial 4q35.1q35.2 microdeletion associated with no apparently phenotypic abnormality in the family carrier members
16天前
已完结
Moderate mental retardation without dysmorphic symptoms in intrachromosomal 11p12 duplication
25天前
已关闭
Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder
1个月前
已完结
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatments
1个月前
已完结
Prenatal diagnosis and genetic counselling of a de-novo 11p13p11.2 duplication with normal phenotype
1个月前
已关闭
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
2个月前
已完结
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
3个月前
已完结
Mutation spectrum of amyotrophic lateral sclerosis in Central South China
3个月前
已完结
[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism]
4个月前
已完结
Fructose-1,6-bisphosphatase deficiency presented with complex febrile convulsion
4个月前
已关闭
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