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Brain : a Journal of Neurology
|
June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
European Journal of Human Genetics : EJHG
|
August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Nature Communications
|
September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
Jana Willim, Daniel Woike, Daniel Greene, et al.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, et al.
Journal of Medical Genetics
|
March 30, 2019
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, 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
|
February 15, 2025
AUTS2-related syndrome: Insights from a large European cohort
Lorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.
Page
of 19
Search research articles
Search
Showing results (161-170 of 184) with videos related to
Sort By:
Page
of 19
Brain : a Journal of Neurology
|
June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
European Journal of Human Genetics : EJHG
|
August 29, 2023
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Nature Communications
|
September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
Jana Willim, Daniel Woike, Daniel Greene, et al.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, et al.
Journal of Medical Genetics
|
March 30, 2019
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, 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
|
February 15, 2025
AUTS2-related syndrome: Insights from a large European cohort
Lorenzo Loberti, Loredaria Adamo, Enrica Antolini, et al.
Page
of 19