Lv1
70 积分 2023-01-14 加入
Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family
4个月前
已完结
FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome
5个月前
已完结
Pathogenic Genes for Congenital Microtia: A Bioinformatics Analysis
5个月前
已关闭
Molecular diagnosis of tuberous sclerosis complex in fetuses and infants: an institutional case series
5个月前
已完结
Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology
5个月前
已完结
Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations
5个月前
已完结
Defect in human myocardial long-chain fatty acid uptake is caused by FAT/CD36 mutations
5个月前
已完结
Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
6个月前
已关闭
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria forNF2-related schwannomatosis
6个月前
已关闭
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis
6个月前
已关闭
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