Lv41
630 积分 2024-02-23 加入
NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits
8天前
已完结
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
10天前
已完结
Monozygotic twins with identical premature timing of acne onset: A Case report
13天前
已完结
Jacobs Syndrome
14天前
已关闭
Adult patients with sporadic polycystic kidney disease: the importance of screening for mutations in the PKD1 and PKD2 genes
18天前
已关闭
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting
26天前
已完结
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia
1个月前
已完结
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date
2个月前
已完结
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina
2个月前
已完结
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina
2个月前
已完结
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