Lv621
2470 积分 2023-08-28 加入
Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability
12天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
14天前
已完结
Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance
20天前
已完结
CCDC66mutations are associated with high myopia through affected cell mitosis
22天前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
1个月前
已完结
The diagnostic utility of exome‐based carrier screening in families with a positive family history
1个月前
已完结
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
1个月前
已完结
Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort
1个月前
已完结
Using whole exome sequencing to identify susceptibility genes associated with nonsyndromic cleft lip with or without cleft palate
1个月前
已完结
Neonatal jaundice caused by compound mutations of SLC10A1 and a novel UGT1A1 gene
1个月前
已完结
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