Lv1
68 积分 2025-05-21 加入
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesis
7个月前
已关闭
[Clinical features and genetic testing of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome]
8个月前
已完结
Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot
8个月前
已完结
Whole exome sequencing identifiesLRP1as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans
8个月前
已完结
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation
8个月前
已完结
The phenotypic spectrum of YWHAG‐related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy
8个月前
已完结
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
8个月前
已完结
Clinical and molecular findings in children with retinitis pigmentosa
8个月前
已完结
Mutations in ARHGEF15 cause autosomal dominant hereditary cerebral small vessel disease and osteoporotic fracture
8个月前
已完结
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy
8个月前
已完结
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