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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.
Human Genomics
|
March 6, 2024
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome
Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, et al.
International Journal of Molecular Sciences
|
January 8, 2020
Novel Loss-of-Function Variants in <i>CDC14A</i> are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients
Julia Doll, Susanne Kolb, Linda Schnapp, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 20, 2024
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss
Clara Mendia, Thibault Peineau, Mina Zamani, et al.
European Journal of Human Genetics : EJHG
|
October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
Eyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
Clinical Genetics
|
August 6, 2024
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis
Masoome Alerasool, Atieh Eslahi, Barbara Vona, et al.
Genes
|
July 29, 2023
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
<i>PKHD1L1</i>, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
Human Genetics
|
March 8, 2024
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
Ear and Hearing
|
July 13, 2023
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss
Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, et al.
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Search research articles
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Showing results (51-60 of 101) with videos related to
Sort By:
Page
of 11
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.
Human Genomics
|
March 6, 2024
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome
Asuman Koparir, Caroline Lekszas, Kemal Keseroglu, et al.
International Journal of Molecular Sciences
|
January 8, 2020
Novel Loss-of-Function Variants in <i>CDC14A</i> are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients
Julia Doll, Susanne Kolb, Linda Schnapp, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 20, 2024
Clarin-2 gene supplementation durably preserves hearing in a model of progressive hearing loss
Clara Mendia, Thibault Peineau, Mina Zamani, et al.
European Journal of Human Genetics : EJHG
|
October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
Eyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
Clinical Genetics
|
August 6, 2024
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis
Masoome Alerasool, Atieh Eslahi, Barbara Vona, et al.
Genes
|
July 29, 2023
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders
Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
<i>PKHD1L1</i>, A Gene Involved in the Stereocilia Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
Human Genetics
|
March 8, 2024
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, et al.
Ear and Hearing
|
July 13, 2023
Variability in Cochlear Implantation Outcomes in a Large German Cohort With a Genetic Etiology of Hearing Loss
Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, et al.
Page
of 11