Lv5
920 积分 2022-11-09 加入
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
5天前
已完结
New insights intoCC2D2A-related Joubert syndrome
14天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
15天前
已完结
[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations]
15天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
15天前
已完结
Diverse clinical presentation of SPTBN1 variants: Complex versus primary attention‐deficit/hyperactivity disorder
1个月前
已完结
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III
1个月前
已完结
Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases
1个月前
已完结
Lessons learned from 40 novel PIGA patients and a review of the literature
1个月前
已完结
Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex
1个月前
已完结
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