Lv2
170 积分 2023-11-30 加入
Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations
1小时前
待确认
5’UTR gene regions in germline DNA sequencing panels: lessons from the analysis of breast and ovarian cancer patients of Tatar and Bashkir ethnic origin
8天前
已完结
[Analysis of DMD gene variants in a single center]
8天前
已完结
P222: TTN truncating variants are enriched in cardiomyopathy/arrhythmia and neuromuscular cases and M-band exon 358 contributes to primary cardiomyopathy/arrhythmia
12天前
已完结
Genetic variation features of neonatal hyperbilirubinemia caused by inherited diseases
13天前
已完结
Characterization of Novel WFS1 Variants in Three Diabetes Pedigrees
20天前
已完结
Analysis of pathogenic variants in 605 Chinese children with non-syndromic cardiac conotruncal defects based on targeted sequencing
22天前
已完结
Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children
29天前
已完结
Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death
1个月前
已完结
46,XY disorders of sex development: the use of NGS for prevalent variants
2个月前
已完结
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