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UnknownGenome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.
Not available
S-EPMC11695809 | biostudies-literature
UnknownNovel GPR156 variants confirm its role in moderate sensorineural hearing loss.
Not available
S-EPMC10562426 | biostudies-literature
UnknownIdentification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability.
Not available
S-EPMC6267965 | biostudies-literature
UnknownDiagnostic yield of next generation sequencing gene panel assays for early-onset glaucoma in an ethnically diverse population.
Not available
S-EPMC9772253 | biostudies-literature
UnknownNovel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
Not available
S-EPMC5679420 | biostudies-literature
UnknownNovel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.
Not available
S-EPMC4589207 | biostudies-literature
UnknownWhole-exome sequencing and its impact in hereditary hearing loss.
Not available
S-EPMC5503681 | biostudies-literature
UnknownComprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
Not available
S-EPMC4641619 | biostudies-literature
UnknownRipor2 is involved in auditory hair cell stereociliary bundle structure and orientation.
Not available
S-EPMC6238639 | biostudies-literature
UnknownEvidence for genotype-phenotype correlation for OTOF mutations.
Not available
S-EPMC4066206 | biostudies-literature
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