about
Genetics of Tinnitus: Still in its Infancy.Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.Non-syndromic hearing loss gene identification: A brief history and glimpse into the future.Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnosticsA Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing ImpairmentThe CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.Confirmation of GRHL2 as the gene for the DFNA28 locus.The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.Hereditary hearing loss SNP-microarray pilot study.Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus ResearchExpanding the clinical phenotype of IARS2-related mitochondrial diseaseMPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossCardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report.Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing lossBiallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretionPhenotypic Characterization of DFNB16-associated Hearing LossHeritability and TinnitusExome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing lossA Big Data Perspective on the Genomics of Hearing LossNovel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani PatientsA novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family
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description
researcher ORCID ID = 0000-0002-6719-3447
@en
wetenschapper
@nl
name
Barbara Vona
@ast
Barbara Vona
@en
Barbara Vona
@es
Barbara Vona
@nl
type
label
Barbara Vona
@ast
Barbara Vona
@en
Barbara Vona
@es
Barbara Vona
@nl
prefLabel
Barbara Vona
@ast
Barbara Vona
@en
Barbara Vona
@es
Barbara Vona
@nl
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P21
P31
P496
0000-0002-6719-3447