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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
The Journal of Clinical Investigation
|
June 11, 2026
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures
Michelle Hua, Mohamad-Reza Aghanoori, Melissa J MacPherson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Richard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
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Showing results (11-20 of 14) with videos related to
Sort By:
Page
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This site can display upto 14 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 10, 2022
De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder
Yoeri Sleyp, Irene Valenzuela, Andrea Accogli, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures
Mariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
The Journal of Clinical Investigation
|
June 11, 2026
Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures
Michelle Hua, Mohamad-Reza Aghanoori, Melissa J MacPherson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 2, 2022
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
Richard H van Jaarsveld, Jack Reilly, Marie-Claire Cornips, et al.
Page
of 2