Lv1
37 积分 2024-02-05 加入
Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa
1个月前
已完结
Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution
1个月前
已完结
Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree
1个月前
已完结
Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing
1个月前
已完结
Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS
1个月前
已完结
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
1个月前
已完结
In Search of the DFNA11 Myosin VIIA Low- and Mid-Frequency Auditory Genetic Modifier
1个月前
已完结
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