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M Repetto

Showing results (251-260 of 266) with videos related to

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The American Journal of Psychiatry|July 29, 2017
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion SyndromeAnne S Bassett, Chelsea Lowther, Daniele Merico, et al.
Circulation. Cardiovascular Genetics|October 14, 2017
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the <i>GPR98</i> Locus on 5q14.3Tingwei Guo, Gabriela M Repetto, Donna M McDonald McGinn, et al.
Human Mutation|April 13, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disabilitySonja Neuser, Barbara Brechmann, Gali Heimer, et al.
American Journal of Human Genetics|December 25, 2019
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart DefectsYingjie Zhao, Alexander Diacou, H Richard Johnston, et al.
Human Brain Mapping|January 15, 2024
Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndromeRuiyang Ge, Christopher R K Ching, Anne S Bassett, et al.
Medrxiv : the Preprint Server for Health Sciences|November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.
NPJ Genomic Medicine|July 18, 2023
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DSYingjie Zhao, Yujue Wang, Lijie Shi, et al.
Brain : a Journal of Neurology|June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndromeJhih-Rong Lin, Daniella Miller, Dana Luong, et al.
Pageof 27

Showing results (251-260 of 266) with videos related to

Sort By:
Pageof 27
The American Journal of Psychiatry|July 29, 2017
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion SyndromeAnne S Bassett, Chelsea Lowther, Daniele Merico, et al.
Circulation. Cardiovascular Genetics|October 14, 2017
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the <i>GPR98</i> Locus on 5q14.3Tingwei Guo, Gabriela M Repetto, Donna M McDonald McGinn, et al.
Human Mutation|April 13, 2021
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disabilitySonja Neuser, Barbara Brechmann, Gali Heimer, et al.
American Journal of Human Genetics|December 25, 2019
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart DefectsYingjie Zhao, Alexander Diacou, H Richard Johnston, et al.
Human Brain Mapping|January 15, 2024
Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndromeRuiyang Ge, Christopher R K Ching, Anne S Bassett, et al.
Medrxiv : the Preprint Server for Health Sciences|November 22, 2024
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.
NPJ Genomic Medicine|July 18, 2023
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DSYingjie Zhao, Yujue Wang, Lijie Shi, et al.
Brain : a Journal of Neurology|June 10, 2025
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorderMarissa J Maroni, Melissa Barton, Katherine Lynch, et al.
Neurology|June 10, 2016
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic featuresSimona Balestrini, Mathieu Milh, Claudia Castiglioni, et al.
Medrxiv : the Preprint Server for Health Sciences|March 27, 2026
Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndromeJhih-Rong Lin, Daniella Miller, Dana Luong, et al.
Pageof 27