Lv1
40 积分 2021-07-23 加入
Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive
1个月前
已完结
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early‐onset case of Leigh syndrome
1个月前
已完结
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children
2个月前
已完结
The emergence of SLE-causing UNC93B1 variants in 2024
3个月前
已完结
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome
3个月前
已完结
Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study
3个月前
已完结
A novel GNAL mutation in familial dystonia presenting with childhood tremor and myoclonus
4个月前
已完结
Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants
4个月前
已完结
Peripheral Blood–Derived PD-1/CD28–CD19 CAR–Modified PD-1+ T-Cell Therapy in Patients with Solid Tumors
5个月前
已完结
Clinical utility of exome sequencing in a pediatric epilepsy cohort
5个月前
已完结
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