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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jérémie Courraud, Eric Chater-Diehl, Benjamin Durand, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
European Journal of Human Genetics : EJHG
|
February 2, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, et al.
Genome Medicine
|
June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Margot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
Cell
|
October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Human Genetics
|
November 8, 2021
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, et al.
Brain : a Journal of Neurology
|
February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Michael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
Journal of Medical Genetics
|
April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
Journal of Medical Genetics
|
April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Annie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
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of 12
Search research articles
Search
Showing results (91-100 of 120) with videos related to
Sort By:
Page
of 12
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2021
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jérémie Courraud, Eric Chater-Diehl, Benjamin Durand, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 10, 2024
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
European Journal of Human Genetics : EJHG
|
February 2, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, et al.
Genome Medicine
|
June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Margot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
Cell
|
October 8, 2025
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Matthew Jensen, Corrine Smolen, Anastasia Tyryshkina, et al.
Human Genetics
|
November 8, 2021
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Juliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, et al.
Brain : a Journal of Neurology
|
February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia
Michael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Sayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
Journal of Medical Genetics
|
April 6, 2018
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features
Marguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.
Journal of Medical Genetics
|
April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
Annie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
Page
of 12