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zhengzehong
Lv3
1
290 积分
2022-12-28 加入
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Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis
2小时前
求助中
Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism
3天前
已完结
IRF2BPL‐Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA
12天前
已完结
Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia
30天前
已完结
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
2个月前
已完结
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
2个月前
已完结
Clinical and genetic characteristics of 1672 cases of amyotrophic lateral sclerosis in China: a single-center retrospective study
2个月前
已完结
Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis
2个月前
已完结
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity
2个月前
已完结
GGC Repeat Expansion of NOTCH2NLC in Taiwanese Patients With Inherited Neuropathies
2个月前
已完结
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