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Barbara Vona

Showing results (81-90 of 101) with videos related to

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Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>FRMPD4</i> , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing lossDaniel Liedtke, Kristen Rak, Katrina M Schrode, et al.
Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.
American Journal of Human Genetics|November 20, 2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaZheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over timeKezang C Tshering, Marina T DiStefano, Andrea M Oza, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
Brain : a Journal of Neurology|April 4, 2022
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyMarieke M van der Knoop, Reza Maroofian, Yuko Fukata, et al.
Nature Cell Biology|August 5, 2025
A programmed decline in ribosome levels governs human early neurodevelopmentChunyang Ni, Yudong Wei, Barbara Vona, et al.
Pageof 11

Showing results (81-90 of 101) with videos related to

Sort By:
Pageof 11
Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>FRMPD4</i> , a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing lossDaniel Liedtke, Kristen Rak, Katrina M Schrode, et al.
Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.
American Journal of Human Genetics|November 20, 2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxiaZheng Yie Yap, Stephanie Efthymiou, Simone Seiffert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 23, 2025
ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over timeKezang C Tshering, Marina T DiStefano, Andrea M Oza, et al.
American Journal of Human Genetics|May 19, 2021
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulationAlban Ziegler, Rémi Duclaux-Loras, Céline Revenu, et al.
American Journal of Human Genetics|December 14, 2020
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signalingYuh-Charn Lin, Marcello Niceta, Valentina Muto, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 26, 2021
Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafishSheng-Jia Lin, Barbara Vona, Patricia G Barbalho, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
Brain : a Journal of Neurology|April 4, 2022
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsyMarieke M van der Knoop, Reza Maroofian, Yuko Fukata, et al.
Nature Cell Biology|August 5, 2025
A programmed decline in ribosome levels governs human early neurodevelopmentChunyang Ni, Yudong Wei, Barbara Vona, et al.
Pageof 11