Lv21
180 积分 2024-02-29 加入
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
20天前
已完结
Development and validation of a new genotype–phenotype correlation for Niemann‐Pick disease type C1
1个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已完结
Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X‐linked retinoschisis from North India
2个月前
已完结
Genotype-Phenotype Correlations in Thirty Japanese Patients with Congenital Hypothyroidism Attributable to TG Defects
2个月前
已完结
[Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations]
2个月前
已完结
Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A
2个月前
已关闭
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease
2个月前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
2个月前
已完结
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families
2个月前
已完结
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