Lv1
50 积分 2025-10-28 加入
Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype–phenotype association study
8天前
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
13天前
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
15天前
已完结
Biallelic variants in RYR1 and STAC3 are predominant causes of King-Denborough Syndrome in an African cohort
21天前
已完结
Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients
1个月前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
1个月前
已完结
A heterozygous 9q34 deletion encompassing SPTAN1 as a cause of distal myopathy
2个月前
已完结
Is RPGR-related retinal dystrophy associated with systemic disease? A case series
4个月前
已完结
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
5个月前
已完结
A novel deep intronic variant in the DMD gene causes Duchenne muscular dystrophy by pseudoexon activation encoding a nonsense codon
6个月前
已完结
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