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Barbara Vona

Showing results (61-70 of 101) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|August 20, 2025
The <i>TECTB-C225Y</i> Variant Causing Autosomal Dominant Deafness in a Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in MiceEvan B Hale, Barbara Vona, Richard J Goodyear, et al.
BMC Medical Genetics|November 14, 2018
Expanding the clinical phenotype of IARS2-related mitochondrial diseaseBarbara Vona, Reza Maroofian, Emanuele Bellacchio, et al.
Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
Human Molecular Genetics|February 5, 2019
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24Carola Hedberg-Oldfors, Alexandra Abramsson, Daniel P S Osborn, et al.
Annals of Clinical and Translational Neurology|July 23, 2022
GGPS1-associated muscular dystrophy with and without hearing lossRauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, et al.
Human Mutation|July 11, 2022
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory functionSheng-Jia Lin, Barbara Vona, Hillary M Porter, et al.
Human Genetics|July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Genes|November 14, 2020
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani FamiliesJulia Doll, Barbara Vona, Linda Schnapp, et al.
Human Genetics|June 20, 2021
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairmentPaulina Bahena, Narsis Daftarian, Reza Maroofian, et al.
Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Pageof 11

Showing results (61-70 of 101) with videos related to

Sort By:
Pageof 11
Medrxiv : the Preprint Server for Health Sciences|August 20, 2025
The <i>TECTB-C225Y</i> Variant Causing Autosomal Dominant Deafness in a Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in MiceEvan B Hale, Barbara Vona, Richard J Goodyear, et al.
BMC Medical Genetics|November 14, 2018
Expanding the clinical phenotype of IARS2-related mitochondrial diseaseBarbara Vona, Reza Maroofian, Emanuele Bellacchio, et al.
Epilepsia|January 7, 2021
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathyStephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, et al.
Human Molecular Genetics|February 5, 2019
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24Carola Hedberg-Oldfors, Alexandra Abramsson, Daniel P S Osborn, et al.
Annals of Clinical and Translational Neurology|July 23, 2022
GGPS1-associated muscular dystrophy with and without hearing lossRauan Kaiyrzhanov, Luke Perry, Clarissa Rocca, et al.
Human Mutation|July 11, 2022
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory functionSheng-Jia Lin, Barbara Vona, Hillary M Porter, et al.
Human Genetics|July 9, 2018
MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing lossGuney Bademci, Clemer Abad, Armagan Incesulu, et al.
Genes|November 14, 2020
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani FamiliesJulia Doll, Barbara Vona, Linda Schnapp, et al.
Human Genetics|June 20, 2021
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairmentPaulina Bahena, Narsis Daftarian, Reza Maroofian, et al.
Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Pageof 11