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Barbara Vona

Showing results (31-40 of 101) with videos related to

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Frontiers in Genetics|September 6, 2023
Unraveling haplotype errors in the DFNA33 locusBarbara Vona, Sabrina Regele, Aboulfazl Rad, et al.
Elife|February 27, 2020
Biallelic <i>TANGO1</i> mutations cause a novel syndromal disease due to hampered cellular collagen secretionCaroline Lekszas, Ombretta Foresti, Ishier Raote, et al.
Molecular Syndromology|February 20, 2018
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous FamilyBarbara Vona, Reza Maroofian, Geetu Mendiratta, et al.
Human Mutation|November 10, 2020
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locusAboulfazl Rad, Thore Schade-Mann, Philipp Gamerdinger, et al.
Communications Medicine|May 30, 2026
A comparative survey of functional evidence use in hearing and vision loss geneticsR Arda Inan, Marina T DiStefano, Sami S Amr, et al.
International Journal of Molecular Sciences|February 11, 2023
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in <i>VPS13D</i>-Related DisorderMartje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, et al.
Human Molecular Genetics|December 27, 2024
A TAF11 variant contributes to non-syndromic cleft lip only through modulating neural crest cell migrationDandan Li, Yu Tian, Barbara Vona, et al.
Genes|September 28, 2024
A Novel <i>MAG</i> Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani FamilyRabia Akram, Haseeb Anwar, Humaira Muzaffar, et al.
BMC Medical Genetics|May 20, 2018
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian familyMichaela A H Hofrichter, Majid Mojarad, Julia Doll, et al.
Communications Biology|December 28, 2020
Radixin modulates the function of outer hair cell stereociliaSonal Prasad, Barbara Vona, Marta Diñeiro, et al.
Pageof 11

Showing results (31-40 of 101) with videos related to

Sort By:
Pageof 11
Frontiers in Genetics|September 6, 2023
Unraveling haplotype errors in the DFNA33 locusBarbara Vona, Sabrina Regele, Aboulfazl Rad, et al.
Elife|February 27, 2020
Biallelic <i>TANGO1</i> mutations cause a novel syndromal disease due to hampered cellular collagen secretionCaroline Lekszas, Ombretta Foresti, Ishier Raote, et al.
Molecular Syndromology|February 20, 2018
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous FamilyBarbara Vona, Reza Maroofian, Geetu Mendiratta, et al.
Human Mutation|November 10, 2020
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locusAboulfazl Rad, Thore Schade-Mann, Philipp Gamerdinger, et al.
Communications Medicine|May 30, 2026
A comparative survey of functional evidence use in hearing and vision loss geneticsR Arda Inan, Marina T DiStefano, Sami S Amr, et al.
International Journal of Molecular Sciences|February 11, 2023
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in <i>VPS13D</i>-Related DisorderMartje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, et al.
Human Molecular Genetics|December 27, 2024
A TAF11 variant contributes to non-syndromic cleft lip only through modulating neural crest cell migrationDandan Li, Yu Tian, Barbara Vona, et al.
Genes|September 28, 2024
A Novel <i>MAG</i> Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani FamilyRabia Akram, Haseeb Anwar, Humaira Muzaffar, et al.
BMC Medical Genetics|May 20, 2018
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian familyMichaela A H Hofrichter, Majid Mojarad, Julia Doll, et al.
Communications Biology|December 28, 2020
Radixin modulates the function of outer hair cell stereociliaSonal Prasad, Barbara Vona, Marta Diñeiro, et al.
Pageof 11