Lv6
1700 积分 2022-05-04 加入
Refining the genetic diagnostic puzzle: A case report on a Chinese ARPKD patient with a reciprocal balanced translocation and c.2507 T > C (p.V836A) in PKHD1
7天前
已完结
Early diagnostic value of home video-based machine learning in autism spectrum disorder: a meta-analysis
7天前
已完结
Deletion of Inpp5a causes ataxia and cerebellar degeneration in mice
19天前
已完结
Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa
22天前
已关闭
The de novo GABRA4 p.Thr300Ile variant found in a patient with early-onset intractable epilepsy and neurodevelopmental abnormalities displays gain-of-function traits
1个月前
已完结
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
2个月前
已完结
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
3个月前
已完结
Loss-of-function of KMT5B leads to neurodevelopmental disorder and impairs neuronal development and neurogenesis
3个月前
已完结
A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin
3个月前
已完结
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
3个月前
已完结
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