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Barbara Vona

Showing results (41-50 of 101) with videos related to

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Clinical Genetics|June 10, 2024
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literatureAboulfazl Rad, Oliver Bartsch, Somayeh Bakhtiari, et al.
Ear and Hearing|November 10, 2021
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 StudyAnke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2014
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutationsBarbara Vona, Tobias Müller, Indrajit Nanda, et al.
QJM : Monthly Journal of the Association of Physicians|October 15, 2025
Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 VariantsDaniel Owrang, Aboulfazl Rad, Constantin Cretu, et al.
Cell Reports|June 7, 2025
Combinatorial transcriptional regulation establishes subtype-appropriate synaptic properties in auditory neuronsIsle Bastille, Lucy Lee, Cynthia Moncada-Reid, et al.
European Journal of Human Genetics : EJHG|February 20, 2024
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphismFatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
Orphanet Journal of Rare Diseases|March 4, 2022
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndromeAboulfazl Rad, Maryam Najafi, Fatemeh Suri, et al.
Molecular Neurobiology|January 9, 2026
Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic WindowDaniel Owrang, Aboulfazl Rad, Masoome Alerasool, et al.
Hereditary Cancer in Clinical Practice|January 7, 2021
Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicineTatiana N Sokolova, Valeriy V Breder, Irina S Shumskaya, et al.
Pageof 11

Showing results (41-50 of 101) with videos related to

Sort By:
Pageof 11
Clinical Genetics|June 10, 2024
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literatureAboulfazl Rad, Oliver Bartsch, Somayeh Bakhtiari, et al.
Ear and Hearing|November 10, 2021
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 StudyAnke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 31, 2014
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutationsBarbara Vona, Tobias Müller, Indrajit Nanda, et al.
QJM : Monthly Journal of the Association of Physicians|October 15, 2025
Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 VariantsDaniel Owrang, Aboulfazl Rad, Constantin Cretu, et al.
Cell Reports|June 7, 2025
Combinatorial transcriptional regulation establishes subtype-appropriate synaptic properties in auditory neuronsIsle Bastille, Lucy Lee, Cynthia Moncada-Reid, et al.
European Journal of Human Genetics : EJHG|February 20, 2024
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphismFatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
Orphanet Journal of Rare Diseases|March 4, 2022
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndromeAboulfazl Rad, Maryam Najafi, Fatemeh Suri, et al.
Molecular Neurobiology|January 9, 2026
Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic WindowDaniel Owrang, Aboulfazl Rad, Masoome Alerasool, et al.
Hereditary Cancer in Clinical Practice|January 7, 2021
Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicineTatiana N Sokolova, Valeriy V Breder, Irina S Shumskaya, et al.
Pageof 11