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Showing results (321-330 of 360) with videos related to

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The American Journal of Psychiatry|August 24, 2022
Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum DisorderCatherine A Brownstein, Elise Douard, Josephine Mollon, et al.
The Journal of Pharmacology and Experimental Therapeutics|August 26, 2009
In vitro and in vivo properties of 3-tert-butyl-7-(5-methylisoxazol-3-yl)-2-(1-methyl-1H-1,2,4-triazol-5-ylmethoxy)-pyrazolo[1,5-d]-[1,2,4]triazine (MRK-016), a GABAA receptor alpha5 subtype-selective inverse agonistJohn R Atack, Karen A Maubach, Keith A Wafford, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
Neurology|October 3, 2022
The Phenotypic Continuum of <i>ATP1A3</i>-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.
American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
American Journal of Human Genetics|March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.
Molecular Psychiatry|February 18, 2021
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypesCatherine A Brownstein, Richard S Smith, Lance H Rodan, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
The Journal of Clinical Investigation|December 4, 2019
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disabilityLin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
Pageof 36

Showing results (321-330 of 360) with videos related to

Sort By:
Pageof 36
The American Journal of Psychiatry|August 24, 2022
Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum DisorderCatherine A Brownstein, Elise Douard, Josephine Mollon, et al.
The Journal of Pharmacology and Experimental Therapeutics|August 26, 2009
In vitro and in vivo properties of 3-tert-butyl-7-(5-methylisoxazol-3-yl)-2-(1-methyl-1H-1,2,4-triazol-5-ylmethoxy)-pyrazolo[1,5-d]-[1,2,4]triazine (MRK-016), a GABAA receptor alpha5 subtype-selective inverse agonistJohn R Atack, Karen A Maubach, Keith A Wafford, et al.
American Journal of Human Genetics|July 23, 2019
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar HypoplasiaOguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, et al.
Neurology|October 3, 2022
The Phenotypic Continuum of <i>ATP1A3</i>-Related DisordersAikaterini Vezyroglou, Rhoda Akilapa, Katy Barwick, et al.
American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.
American Journal of Human Genetics|March 21, 2020
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Chloe M Reuter, Maura R Z Ruzhnikov, et al.
Molecular Psychiatry|February 18, 2021
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypesCatherine A Brownstein, Richard S Smith, Lance H Rodan, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
The Journal of Clinical Investigation|December 4, 2019
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disabilityLin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
Pageof 36