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50 积分 2025-10-28 加入
Genotype–phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles
2天前
已完结
OLIGOGENIC HETEROZYGOUS MUTATIONS MANIFESTING AS COMBINED PRIMARY IMMUNODEFICIENCY
30天前
已完结
Excessive deubiquitination of NLRP3-R779C variant contributes to very-early-onset inflammatory bowel disease development
1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
2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
2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
2个月前
已完结
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort
2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
3个月前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
3个月前
已完结
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
4个月前
已完结
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