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Current Neurology and Neuroscience Reports
|
November 5, 2025
Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights
Daniel Owrang, Barbara Vona
STAR Protocols
|
June 19, 2025
Protocol for a minigene splice assay using the pET01 vector
Hannah Andreae, Marialessandra Curcio, Daniel Owrang, 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 Variants
Daniel Owrang, Aboulfazl Rad, Constantin Cretu, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2024
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, et al.
Molecular Neurobiology
|
January 9, 2026
Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window
Daniel Owrang, Aboulfazl Rad, Masoome Alerasool, et al.
Molecular Diagnosis & Therapy
|
May 16, 2025
Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population
Madiha Shadab, Afif Ben-Mahmoud, Luis Nicolás Martínez Völter, et al.
Molecular Medicine (Cambridge, Mass.)
|
April 7, 2026
Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics
Asuman Koparir, Paulina Bahena Carbajal, Mina Zamini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 24, 2024
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
Lettie E Rawlins, Reza Maroofian, Stuart J Cannon, et al.
American Journal of Human Genetics
|
April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Page
of 1
Search research articles
Search
Showing results (1-10 of 9) with videos related to
Sort By:
Page
of 1
Current Neurology and Neuroscience Reports
|
November 5, 2025
Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights
Daniel Owrang, Barbara Vona
STAR Protocols
|
June 19, 2025
Protocol for a minigene splice assay using the pET01 vector
Hannah Andreae, Marialessandra Curcio, Daniel Owrang, 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 Variants
Daniel Owrang, Aboulfazl Rad, Constantin Cretu, et al.
European Journal of Human Genetics : EJHG
|
February 20, 2024
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, et al.
Molecular Neurobiology
|
January 9, 2026
Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window
Daniel Owrang, Aboulfazl Rad, Masoome Alerasool, et al.
Molecular Diagnosis & Therapy
|
May 16, 2025
Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population
Madiha Shadab, Afif Ben-Mahmoud, Luis Nicolás Martínez Völter, et al.
Molecular Medicine (Cambridge, Mass.)
|
April 7, 2026
Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics
Asuman Koparir, Paulina Bahena Carbajal, Mina Zamini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 24, 2024
Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder
Lettie E Rawlins, Reza Maroofian, Stuart J Cannon, et al.
American Journal of Human Genetics
|
April 17, 2025
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng, et al.
Page
of 1