Lv2
130 积分 2025-05-13 加入
Molecular basis of von Hippel-Lindau syndrome in Chinese patients
12天前
已关闭
A novel deletion mutation accompanied by a point mutation in Lamin A/C gene: Screened from a dilated cardiomyopathy family
18天前
已完结
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China
23天前
已完结
Results of Genetic Testing in 855 Consecutive Unrelated Patients Referred for Long QT Syndrome in a Clinical Laboratory
25天前
已完结
Functional analysis of HADH c.99C>G shows that the variant causes the proliferation of pancreatic islets and leu-sensitive hyperinsulinaemia
2个月前
已关闭
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
2个月前
已完结
Variants of Flavin-Containing Monooxygenase 3 Found in Subjects in an Updated Database of Genome Resources
2个月前
已完结
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy
2个月前
已完结
Identification of hereditary hemochromatosis pedigrees and a novel SLC40A1 mutation in Chinese population
2个月前
已关闭
Prenatal diagnosis in the fetal hyperechogenic kidneys: assessment using chromosomal microarray analysis and exome sequencing
3个月前
已完结
Effects of pond depth and water temperature on the growth, mortality and body composition of Nile tilapia, Oreochromis niloticus (L.)
12天前
已采纳
Design of a Double-joint Robotic Fish Using a Composite Linkage
12天前
已驳回
The validity of psychophysiological detection of information with the Guilty Knowledge Test: A meta-analytic review
12天前
已采纳
Quantitative multi‐spectral oxygen saturation measurements independent of tissue optical properties
1个月前
已采纳
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