Lv1
14 积分 2024-08-07 加入
The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability
1个月前
已完结
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy
1个月前
已完结
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
2个月前
已完结
GGC repeat expansions within new open reading frames are translated into toxic polyglycine proteins in oculopharyngodistal myopathy
3个月前
已完结
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1
4个月前
已完结
The Neuromuscular Junction: A Shared Vulnerability in Aging and Disease
5个月前
已完结
The spectrum of hereditary neuromuscular disorders in the Pakistani population
5个月前
已完结
Clinical application of long‐read nanopore sequencing in a preimplantation genetic testing pre‐clinical workup to identify the junction for complex Xq chromosome rearrangement‐related disease
6个月前
已完结
Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy
6个月前
已完结
Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy
6个月前
已完结
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