Lv11
48 积分 2025-05-21 加入
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesis
2小时前
求助中
[Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome]
25天前
已完结
Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot
26天前
已完结
Whole exome sequencing identifiesLRP1as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans
26天前
已完结
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation
27天前
已完结
The phenotypic spectrum of YWHAG‐related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy
1个月前
已完结
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
1个月前
已完结
Clinical and molecular findings in children with retinitis pigmentosa
1个月前
已完结
Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture
1个月前
已完结
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
1个月前
已完结
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