Lv1
30 积分 2024-09-24 加入
Recessive truncatingNALCNmutation in infantile neuroaxonal dystrophy with facial dysmorphism
16小时前
已完结
Mutation spectrum of the NF1 gene and genotype–phenotype correlations in Turkish patients: Seventeen novel pathogenic variants
7天前
已完结
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
9天前
已完结
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia
10天前
已完结
[A case of transient infantile hypertriglyceridemia caused by mutations in the glycerol-3-phosphate dehydrogenase 1 gene]
1个月前
已完结
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
1个月前
已完结
HYPERAPOBETALIPOPROTEINAEMIA IN TWO FAMILIES WITH XANTHOMAS AND PHYTOSTEROLAEMIA
1个月前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
1个月前
已完结
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