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Christopher Barnett

Showing results (61-70 of 72) with videos related to

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Human Mutation|July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange SyndromeMorad Ansari, Mihail Halachev, David Parry, et al.
The Lancet. Neurology|November 2, 2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing studyGhayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
American Heart Journal|August 25, 2024
Current practices in the management of temporary mechanical circulatory support: A survey of CICU directors in North AmericaAmrita Balgobind, Matthew Pierce, Carlos Alviar, et al.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
Science Translational Medicine|March 2, 2022
Pathogenic variants in <i>MDFIC</i> cause recessive central conducting lymphatic anomaly with lymphedemaAlicia B Byrne, Pascal Brouillard, Drew L Sutton, et al.
Nature Neuroscience|June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsMadeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.
Nature Communications|October 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorderMaggie M K Wong, Rosalie A Kampen, Ruth O Braden, et al.
Nature Genetics|February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHolly A F Stessman, Bo Xiong, Bradley P Coe, et al.
American Heart Journal|June 25, 2026
THE SOCIETY OF CRITICAL CARE CARDIOLOGY - RATIONALE, BLUEPRINT, AND LESSONS LEARNED IN THE CREATION OF A NEW MULTIDISCIPLINARY PROFESSIONAL ORGANIZATIONBalimkiz Senman, P Elliott Miller, Ann Gage, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
Human Mutation|July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange SyndromeMorad Ansari, Mihail Halachev, David Parry, et al.
The Lancet. Neurology|November 2, 2015
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing studyGhayda M Mirzaa, Valerio Conti, Andrew E Timms, et al.
American Heart Journal|August 25, 2024
Current practices in the management of temporary mechanical circulatory support: A survey of CICU directors in North AmericaAmrita Balgobind, Matthew Pierce, Carlos Alviar, et al.
Clinical Epigenetics|September 1, 2018
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndromeVinod Dagar, Wendy Hutchison, Andrea Muscat, et al.
Science Translational Medicine|March 2, 2022
Pathogenic variants in <i>MDFIC</i> cause recessive central conducting lymphatic anomaly with lymphedemaAlicia B Byrne, Pascal Brouillard, Drew L Sutton, et al.
Nature Neuroscience|June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsMadeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.
Nature Communications|October 10, 2025
SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorderMaggie M K Wong, Rosalie A Kampen, Ruth O Braden, et al.
Nature Genetics|February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHolly A F Stessman, Bo Xiong, Bradley P Coe, et al.
American Heart Journal|June 25, 2026
THE SOCIETY OF CRITICAL CARE CARDIOLOGY - RATIONALE, BLUEPRINT, AND LESSONS LEARNED IN THE CREATION OF A NEW MULTIDISCIPLINARY PROFESSIONAL ORGANIZATIONBalimkiz Senman, P Elliott Miller, Ann Gage, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
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