Lv1
48 积分 2025-10-28 加入
The γ-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss
23天前
已完结
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients
24天前
已完结
Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
1个月前
已完结
OLIGOGENIC HETEROZYGOUS MUTATIONS MANIFESTING AS COMBINED PRIMARY IMMUNODEFICIENCY
2个月前
已完结
Excessive deubiquitination of NLRP3-R779C variant contributes to very-early-onset inflammatory bowel disease development
3个月前
已完结
Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype–phenotype association study
4个月前
已完结
Trio‐WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China
4个月前
已完结
Trio‐WES and functional validation reveals a novel splice site variant of SLC26A3 in a case with congenital chloride diarrhea and a systematic review of SLC26A3 mutations in China
4个月前
已完结
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort
4个月前
已完结
Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients
5个月前
已完结
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