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86 积分 2024-08-06 加入
Identification and Characteristics of Novel Mutations in Nonsyndromic Monogenic Obesity
1天前
待确认
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
2天前
已完结
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
4天前
已完结
Survival analysis of clinical and genetic factors in an amyotrophic lateral sclerosis cohort from China
29天前
已完结
A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation
2个月前
已完结
[Analysis of clinical and genetic variation in neonatal intrahepatic cholestasis caused by citrin deficiency]
2个月前
已完结
Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity
3个月前
已完结
Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis
7个月前
已完结
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
8个月前
已完结
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