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Reza Maroofian

Showing results (91-100 of 276) with videos related to

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Ebiomedicine|May 10, 2025
SLK is mutated in individuals with a neurodevelopmental disorderLama Alabdi, Norah Altuwaijri, Jun-Yi Zhu, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and DystroglycanopathyDaniel P S Osborn, Heather L Pond, Neda Mazaheri, et al.
American Journal of Human Genetics|October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Human Genetics|June 20, 2021
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairmentPaulina Bahena, Narsis Daftarian, Reza Maroofian, et al.
Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Frontiers in Molecular Neuroscience|March 18, 2024
Human mutations in <i>SLITRK3</i> implicated in GABAergic synapse development in miceStephanie Efthymiou, Wenyan Han, Muhammad Ilyas, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
Human Molecular Genetics|March 24, 2020
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron contentRosa Woldegebriel, Jouni Kvist, Noora Andersson, et al.
Journal of Medical Genetics|November 11, 2020
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromePasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, et al.
Pageof 28

Showing results (91-100 of 276) with videos related to

Sort By:
Pageof 28
Ebiomedicine|May 10, 2025
SLK is mutated in individuals with a neurodevelopmental disorderLama Alabdi, Norah Altuwaijri, Jun-Yi Zhu, et al.
American Journal of Human Genetics|February 14, 2017
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and DystroglycanopathyDaniel P S Osborn, Heather L Pond, Neda Mazaheri, et al.
American Journal of Human Genetics|October 5, 2019
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental DelaySangmoon Lee, Dillon Y Chen, Maha S Zaki, et al.
Human Genetics|June 20, 2021
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairmentPaulina Bahena, Narsis Daftarian, Reza Maroofian, et al.
Human Genetics|January 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humansBarbara Vona, Neda Mazaheri, Sheng-Jia Lin, et al.
Frontiers in Molecular Neuroscience|March 18, 2024
Human mutations in <i>SLITRK3</i> implicated in GABAergic synapse development in miceStephanie Efthymiou, Wenyan Han, Muhammad Ilyas, et al.
Medrxiv : the Preprint Server for Health Sciences|July 10, 2023
Biallelic loss of function variants in <i>WBP4</i>, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndromeEden Engal, Kaisa Teele Oja, Reza Maroofian, et al.
Genome Research|June 5, 2019
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic agingAaron R Jeffries, Reza Maroofian, Claire G Salter, et al.
Human Molecular Genetics|March 24, 2020
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron contentRosa Woldegebriel, Jouni Kvist, Noora Andersson, et al.
Journal of Medical Genetics|November 11, 2020
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromePasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, et al.
Pageof 28