Lv21
140 积分 2024-05-14 加入
Novel compound heterozygous indel ZMPSTE24 mutations in a Taiwanese male infant with restrictive dermopathy
42分钟前
待确认
Genetic Testing for Hypertriglyceridemia in Academic Lipid Clinics: Implications for Precision Medicine—Brief Report
16天前
已关闭
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
16天前
已完结
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
17天前
已关闭
Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies
2个月前
已完结
Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing
2个月前
已关闭
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
3个月前
已完结
Other Syndromes with Prominent Ectodermal Dysplasia Signs
4个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
4个月前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993–2020
4个月前
已完结
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