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80 积分 2023-08-09 加入
Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China
5天前
已完结
Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency
11天前
已完结
Novel RARS2 Variants: Updating the Diagnosis and Pathogenesis of Pontocerebellar Hypoplasia Type 6
23天前
已完结
Multiple genetic variants in adolescent patients with left ventricular noncompaction cardiomyopathy
25天前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing
27天前
已完结
Cardiac Involvement and TBCK-Related Neurodevelopmental Disorder: Is It a New Feature of This Condition?
1个月前
已关闭
Fetal macrocephaly in the third trimester: Prenatal phenotype of TAOK1-associated neurodevelopmental disorder
1个月前
已完结
Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review
1个月前
已完结
Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome
1个月前
已完结
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