Lv42
590 积分 2024-09-14 加入
Low-pass genome sequencing: a validated method in clinical cytogenetics
20小时前
待确认
De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females
16天前
已完结
Genomic testing and counseling: The contribution of next‐generation sequencing to epilepsy genetics
16天前
已完结
The Phenotype of Short Stature Homeobox Gene (SHOX) Deficiency in Childhood: Contrasting Children with Leri-Weill Dyschondrosteosis and Turner Syndrome
19天前
已完结
Exploring genotype-phenotype correlation of a novel SHOX gene splicing variant: Langer mesomelic dysplasia or idiopathic short stature
19天前
已完结
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis
19天前
已完结
Pathogenic/likely pathogenic variants in theSHOX,GHRandIGFALSgenes among Indian children with idiopathic short stature
19天前
已关闭
Combined healthy lifestyles, genetic susceptibility, and incident chronic kidney disease: A prospective cohort study
1个月前
已完结
Advances in the diagnosis and detection of chronic kidney disease
1个月前
已完结
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn’s disease
1个月前
已完结
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