Auflistung nach Autor "Vona, Barbara"

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A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Vona, Barbara; Rad, Aboulfazl (2021)
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family

Vona, Barbara (2020)
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus

Rad, Aboulfazl; Schade-Mann, Thore; Gamerdinger, Philipp; Tropitzsch, Anke; Vona, Barbara; Müller, Marcus; Löwenheim, Hubert Martin (2021)
Age-related hearing loss pertaining to potassium ion channels in the cochlea and auditory pathway

Vona, Barbara; Knipper, Marlies; Adel, Youssef; Peixoto Pinheiro, Barbara; Löwenheim, Hubert Martin; Rüttiger, Lukas (2021)
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

Rad, Aboulfazl; Vona, Barbara (2021)
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia

Seiffert, Simone; Vona, Barbara; Weber, Yvonne G. (2021)
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Grossmann, Benita; Grimmel, Mona; Grasshoff, Ute; LRad, Aboulfaz; Vona, Barbara; Haack, Tobias (2021-10-07)
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

Waldmüller, Stephan; Rad, Aboulfazl; Vona, Barbara; Haack, Tobias (2022)
Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

Vona, Barbara (2020)
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

Vona, Barbara; Rad, Aboulfazl (2021)
Big data in der Diagnostik genetischer Schwerhörigkeit

Vona, Barbara; Müller, Marcus; Dofek, Saskia Jasmin; Holderried, Martin; Löwenheim, Hubert Martin; Tropitzsch, Anke (2019)
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Tropitzsch, Anke; Schade-Mann, Thore; Gamerdinger, Philipp; Heyd, Andreas; Vona, Barbara; Holderried, Martin; Dofek, Saskia Jasmin; Müller, Marcus; Löwenheim, Hubert Martin (2022)
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

Vona, Barbara; Rad, Aboulfazl (2023)
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss

Vona, Barbara (2019)
Expanding the clinical phenotype of IARS2-related mitochondrial disease

Mittag, Falk; Traub, Frank; Vona, Barbara (2018)
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy

Vona, Barbara; Rad, Aboulfazl (2021)
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

Vona, Barbara; Kühlewein, Laura (2020)
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss

Vona, Barbara; Löwenheim, Hubert Martin; Tropitzsch, Anke (2022)
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Rad, Aboulfazl; Loum, Stephen; Vona, Barbara (2022)
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

Vona, Barbara (2018)

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Auflistung nach Autor "Vona, Barbara"

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