Lv63
2270 积分 2025-05-19 加入
Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations
1天前
已完结
Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing
2天前
已完结
Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes
2天前
已完结
Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye
2天前
已完结
Functional characterisation and pathological significance of variants of MEF2C promoter in tetralogy of Fallot
2天前
已完结
Divergent epigenetic profile underlie pubertal disorders in MKRN3-associated central precocious puberty and Prader-Willi syndrome: insights from a frameshift variant
11天前
已完结
Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing
11天前
已完结
FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome
11天前
已完结
PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes
11天前
已完结
Gene-based burden testing implicates four novel susceptibility genes associated with isolated short stature in pediatric patients
11天前
已完结
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