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European Journal of Human Genetics : EJHG
|
April 2, 2024
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
Samin A Sajan, Ralph Gradisch, Florian D Vogel, et al.
American Journal of Human Genetics
|
July 30, 2019
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
Björn Fischer-Zirnsak, Lara Segebrecht, Max Schubach, et al.
Brain : a Journal of Neurology
|
July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
Diana Le Duc, Cecilia Giulivi, Susan M Hiatt, 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.
American Journal of Human Genetics
|
April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Dmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, et al.
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of 3
Search research articles
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Showing results (21-30 of 25) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 25 results.
European Journal of Human Genetics : EJHG
|
April 2, 2024
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
Samin A Sajan, Ralph Gradisch, Florian D Vogel, et al.
American Journal of Human Genetics
|
July 30, 2019
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
Björn Fischer-Zirnsak, Lara Segebrecht, Max Schubach, et al.
Brain : a Journal of Neurology
|
July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
Diana Le Duc, Cecilia Giulivi, Susan M Hiatt, 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.
American Journal of Human Genetics
|
April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Dmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, et al.
Page
of 3