Lv11
58 积分 2024-04-22 加入
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
5小时前
待确认
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
1个月前
已完结
Identification of variants in 94 Chinese patients with hereditary spherocytosis by next-generation sequencing
1个月前
已完结
The genetic landscape of autism spectrum disorder in the Middle Eastern population
1个月前
已完结
Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis
2个月前
已完结
Shwachman's syndrome: pathomorphosis and long-term outcome
2个月前
已关闭
[Analysis of results of prenatal diagnosis for 67 pedigrees affected with Duchenne muscular dystrophy in the central plain region of China]
2个月前
已完结
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
2个月前
已完结
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
2个月前
已完结
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
2个月前
已完结
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