Lv52
846 积分 2024-12-18 加入
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing
1小时前
待确认
A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels
1小时前
待确认
High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India
1小时前
待确认
Connexin-26-associated deafness: phenotypic variability and progression of hearing loss
1小时前
待确认
[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations]
1个月前
已完结
The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations
1个月前
已完结
Integrated Genotyping Strategies for Uncovering Detailed Haplotype Structures and Characterization of DMD Duplications
1个月前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
1个月前
已完结
Gorlin syndrome: Identification of 4 novel germ-line mutations of the human patched (PTCH) gene
2个月前
已完结
Paediatric genomics: diagnosing rare disease in children
2个月前
已完结
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