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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.
Biorxiv : the Preprint Server for Biology
|
February 9, 2026
Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy
Sattar Khoshkhoo, Mingyun Bae, Yilan Wang, et al.
Brain : a Journal of Neurology
|
March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
American Journal of Human Genetics
|
April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Nature
|
July 3, 2025
The Somatic Mosaicism across Human Tissues Network
Tim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Nature Neuroscience
|
April 5, 2022
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Phan Q Duy, Stefan C Weise, Claudia Marini, et al.
Neuron
|
June 11, 2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
Stephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, et al.
Nature Genetics
|
August 13, 2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
, S Hong Lee, Stephan Ripke, et al.
Page
of 32
Search research articles
Search
Showing results (311-320 of 319) with videos related to
Sort By:
Page
of 32
You have reached the last page of results.
This site can display upto 319 results.
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.
Biorxiv : the Preprint Server for Biology
|
February 9, 2026
Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy
Sattar Khoshkhoo, Mingyun Bae, Yilan Wang, et al.
Brain : a Journal of Neurology
|
March 22, 2025
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration
Jordi Del-Pozo-Rodriguez, Peggy Tilly, Romain Lecat, et al.
American Journal of Human Genetics
|
April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Nature
|
July 3, 2025
The Somatic Mosaicism across Human Tissues Network
Tim H H Coorens, Ji Won Oh, Yujin Angelina Choi, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Nature Neuroscience
|
April 5, 2022
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus
Phan Q Duy, Stefan C Weise, Claudia Marini, et al.
Neuron
|
June 11, 2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism
Stephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, et al.
Nature Genetics
|
August 13, 2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
, S Hong Lee, Stephan Ripke, et al.
Page
of 32