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American Journal of Human Genetics
|
June 23, 2023
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Long Guo, Smrithi Salian, Jing-Yi Xue, et al.
Plos Genetics
|
May 7, 2016
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders
Anthony R Isles, Andrés Ingason, Chelsea Lowther, et al.
Brain : a Journal of Neurology
|
July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
Marcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
Brain : a Journal of Neurology
|
July 28, 2025
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
Harsha Murthy, Ny Hoang, Jamie C Stark, et al.
Neurology
|
February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
Jimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
The American Journal of Psychiatry
|
July 29, 2017
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome
Anne S Bassett, Chelsea Lowther, Daniele Merico, et al.
Genome Medicine
|
February 19, 2026
A novel spliceosomopathy caused by de novo SF3B3 variants
Luciana Musante, Pavel Janos, Giulia Pianigiani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Anath C Lionel, Gregory Costain, Nasim Monfared, et al.
Brain : a Journal of Neurology
|
June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Page
of 15
Search research articles
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Showing results (121-130 of 144) with videos related to
Sort By:
Page
of 15
American Journal of Human Genetics
|
June 23, 2023
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
Long Guo, Smrithi Salian, Jing-Yi Xue, et al.
Plos Genetics
|
May 7, 2016
Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders
Anthony R Isles, Andrés Ingason, Chelsea Lowther, et al.
Brain : a Journal of Neurology
|
July 19, 2022
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
Marcello Scala, Masashi Nishikawa, Hidenori Ito, et al.
Brain : a Journal of Neurology
|
July 28, 2025
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
Harsha Murthy, Ny Hoang, Jamie C Stark, et al.
Neurology
|
February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy
Jimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
The American Journal of Psychiatry
|
July 29, 2017
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome
Anne S Bassett, Chelsea Lowther, Daniele Merico, et al.
Genome Medicine
|
February 19, 2026
A novel spliceosomopathy caused by de novo SF3B3 variants
Luciana Musante, Pavel Janos, Giulia Pianigiani, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 4, 2017
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
Anath C Lionel, Gregory Costain, Nasim Monfared, et al.
Brain : a Journal of Neurology
|
June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder
Marissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Page
of 15