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American Journal of Human Genetics
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December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Neurology
|
January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
Epilepsia
|
December 23, 2023
Developmental epileptic encephalopathy in DLG4-related synaptopathy
Benedetta Kassabian, Amanda M Levy, Elena Gardella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
European Journal of Human Genetics : EJHG
|
June 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 8, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
Elisabeth Bosch, Bernt Popp, Esther Güse, et al.
American Journal of Human Genetics
|
October 17, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Maolei Gong, Jiayi Li, Zailong Qin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2018
The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Page
of 58
Search research articles
Search
Showing results (561-570 of 576) with videos related to
Sort By:
Page
of 58
American Journal of Human Genetics
|
December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Medrxiv : the Preprint Server for Health Sciences
|
April 16, 2025
De novo variants in <i>KDM2A</i> cause a syndromic neurodevelopmental disorder
Eric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.
Neurology
|
January 2, 2024
Molecular and Phenotypic Characterization of the <i>RORB</i>-Related Disorder
Zeynep Gokce-Samar, Annalisa Vetro, Julitta De Bellescize, et al.
Epilepsia
|
December 23, 2023
Developmental epileptic encephalopathy in DLG4-related synaptopathy
Benedetta Kassabian, Amanda M Levy, Elena Gardella, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 10, 2020
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Chiara Klöckner, Heinrich Sticht, Pia Zacher, et al.
European Journal of Human Genetics : EJHG
|
June 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
Camille Engel, Michaela Rendek, Jessica Assoumani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 8, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
Elisabeth Bosch, Bernt Popp, Esther Güse, et al.
American Journal of Human Genetics
|
October 17, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
Maolei Gong, Jiayi Li, Zailong Qin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 29, 2018
Correction: The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 11, 2018
The landscape of epilepsy-related GATOR1 variants
Sara Baldassari, Fabienne Picard, Nienke E Verbeek, et al.
Page
of 58