Lv1
90 积分 2023-01-14 加入
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency
1个月前
已关闭
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders
1个月前
已完结
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
1个月前
已关闭
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family
6个月前
已完结
FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome
7个月前
已完结
Pathogenic Genes for Congenital Microtia: A Bioinformatics Analysis
7个月前
已关闭
Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series
7个月前
已完结
Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
7个月前
已完结
Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations
7个月前
已完结
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