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Nature Communications
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October 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
Maggie M K Wong, Rosalie A Kampen, Ruth O Braden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 24, 2026
International Clinical Evidence-based Guideline for Kleefstra Syndrome
Arianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, et al.
Journal of Speech, Language, and Hearing Research : JSLHR
|
August 22, 2024
Research Priorities for Childhood Apraxia of Speech: A Long View
Patricia McCabe, Molly Beiting, Elaine R Hitchcock, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 31, 2024
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Nour Elkhateeb, Renarta Crookes, Michael Spiller, et al.
HGG Advances
|
January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Michael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
Human Mutation
|
July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
Michael A Levy, Raissa Relator, Haley McConkey, et al.
American Journal of Human Genetics
|
April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 23, 2022
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
Else Eising, Nazanin Mirza-Schreiber, Eveline L de Zeeuw, et al.
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Search research articles
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Showing results (141-150 of 148) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 148 results.
Nature Communications
|
October 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
Maggie M K Wong, Rosalie A Kampen, Ruth O Braden, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 24, 2026
International Clinical Evidence-based Guideline for Kleefstra Syndrome
Arianne Bouman, Charlotte M W Gaasterland, Carla Sloof-Enthoven, et al.
Journal of Speech, Language, and Hearing Research : JSLHR
|
August 22, 2024
Research Priorities for Childhood Apraxia of Speech: A Long View
Patricia McCabe, Molly Beiting, Elaine R Hitchcock, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 31, 2024
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Nour Elkhateeb, Renarta Crookes, Michael Spiller, et al.
HGG Advances
|
January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Michael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
Human Mutation
|
July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders
Michael A Levy, Raissa Relator, Haley McConkey, et al.
American Journal of Human Genetics
|
April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
August 23, 2022
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
Else Eising, Nazanin Mirza-Schreiber, Eveline L de Zeeuw, et al.
Page
of 15