Lv5
822 积分 2024-01-07 加入
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
3天前
已完结
Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families
6天前
已完结
Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus
1个月前
已完结
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies
1个月前
已完结
Impaired cell surface expression of GLP1R variants determines T2D and obesity risk in humans
2个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
2个月前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
2个月前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
2个月前
已完结
MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations
3个月前
已完结
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
3个月前
已完结
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