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Barbara Vona

Showing results (71-80 of 101) with videos related to

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Human Genetics|March 12, 2022
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase geneJustin A Pater, Cindy Penney, Darren D O'Rielly, et al.
Archives of Iranian Medicine|July 14, 2020
The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot StudyHamideh Sabbaghi, Narsis Daftarian, Fatemeh Suri, et al.
Human Genetics|January 7, 2018
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Domain specific phenotypic expansion associated with variants in <i>MACF1</i>Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.
Brain : a Journal of Neurology|January 13, 2024
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndromeStephanie Efthymiou, Marcello Scala, Vini Nagaraj, et al.
Human Mutation|July 5, 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyNina Bögershausen, Hannah E Krawczyk, Rami A Jamra, et al.
Brain : a Journal of Neurology|June 19, 2022
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaLuis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
Biorxiv : the Preprint Server for Biology|January 23, 2024
An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disordersChunyang Ni, Leqian Yu, Barbara Vona, et al.
Pageof 11

Showing results (71-80 of 101) with videos related to

Sort By:
Pageof 11
Human Genetics|March 12, 2022
Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase geneJustin A Pater, Cindy Penney, Darren D O'Rielly, et al.
Archives of Iranian Medicine|July 14, 2020
The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot StudyHamideh Sabbaghi, Narsis Daftarian, Fatemeh Suri, et al.
Human Genetics|January 7, 2018
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Human Genetics|February 14, 2018
Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for managementLisbeth Tranebjærg, Nicola Strenzke, Sture Lindholm, et al.
Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Domain specific phenotypic expansion associated with variants in <i>MACF1</i>Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.
Brain : a Journal of Neurology|January 13, 2024
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndromeStephanie Efthymiou, Marcello Scala, Vini Nagaraj, et al.
Human Mutation|July 5, 2022
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephalyNina Bögershausen, Hannah E Krawczyk, Rami A Jamra, et al.
Brain : a Journal of Neurology|June 19, 2022
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegiaLuis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorderReza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, et al.
Biorxiv : the Preprint Server for Biology|January 23, 2024
An inappropriate decline in ribosome levels drives a diverse set of neurodevelopmental disordersChunyang Ni, Leqian Yu, Barbara Vona, et al.
Pageof 11