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Reza Maroofian

Showing results (31-40 of 276) with videos related to

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Genes|February 26, 2025
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture KitsClarissa Rocca, David Murphy, Chris Clarkson, et al.
Public Health Genomics|July 19, 2017
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert SyndromeMohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, et al.
Human Mutation|February 18, 2021
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron diseaseNatalie Keller, Cem Paketci, Janine Altmueller, 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.
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 syndromeAsuman Koparir, Caroline Lekszas, Kemal Keseroglu, et al.
Journal of Medical Genetics|August 29, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 22, 2018
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variantMayada Helal, Neda Mazaheri, Bita Shalbafan, et al.
European Journal of Human Genetics : EJHG|October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyEyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
Brain Communications|September 24, 2021
Homozygous missense <i>WIPI2</i> variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease courseReza Maroofian, Andrea Gubas, Rauan Kaiyrzhanov, 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 lossClara Mendia, Thibault Peineau, Mina Zamani, et al.
Pageof 28

Showing results (31-40 of 276) with videos related to

Sort By:
Pageof 28
Genes|February 26, 2025
Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture KitsClarissa Rocca, David Murphy, Chris Clarkson, et al.
Public Health Genomics|July 19, 2017
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert SyndromeMohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, et al.
Human Mutation|February 18, 2021
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron diseaseNatalie Keller, Cem Paketci, Janine Altmueller, 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.
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 syndromeAsuman Koparir, Caroline Lekszas, Kemal Keseroglu, et al.
Journal of Medical Genetics|August 29, 2024
Loss-of-function variants in <i>JPH1</i> cause congenital myopathy with prominent facial and ocular involvementMridul Johari, Ana Topf, Chiara Folland, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 22, 2018
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variantMayada Helal, Neda Mazaheri, Bita Shalbafan, et al.
European Journal of Human Genetics : EJHG|October 25, 2023
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephalyEyyup Uctepe, Barbara Vona, Fatma Nisa Esen, et al.
Brain Communications|September 24, 2021
Homozygous missense <i>WIPI2</i> variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease courseReza Maroofian, Andrea Gubas, Rauan Kaiyrzhanov, 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 lossClara Mendia, Thibault Peineau, Mina Zamani, et al.
Pageof 28