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36 积分 2021-07-23 加入
PulmZoom: Yield for Targeted Gene Panels in Genetically‐Mediated Respiratory Disorders
1个月前
已完结
Genetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing
1个月前
已完结
Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive
3个月前
已完结
CRAT missense variants cause abnormal carnitine acetyltransferase function in an early‐onset case of Leigh syndrome
4个月前
已完结
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children
4个月前
已完结
The emergence of SLE-causing UNC93B1 variants in 2024
5个月前
已完结
Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome
5个月前
已完结
Whole-genome sequencing for the prenatal evaluation of fetal structural anomalies: a prospective multicenter study
5个月前
已完结
A novel GNAL mutation in familial dystonia presenting with childhood tremor and myoclonus
6个月前
已完结
Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants
6个月前
已完结
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