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Neil A Hanchard

Showing results (41-50 of 67) with videos related to

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American Journal of Medical Genetics. Part A|June 28, 2017
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic eventsNeil A Hanchard, Luis A Umana, Lisa D'Alessandro, et al.
American Journal of Human Genetics|November 4, 2023
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiationJonathan J Rios, Yang Li, Nandina Paria, et al.
Genome Medicine|April 25, 2019
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndromeClaudia M B Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, et al.
Genome Medicine|November 2, 2017
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patternsAlexander H Li, Neil A Hanchard, Dieter Furthner, et al.
AAS Open Research|February 5, 2019
The Collaborative African Genomics Network (CAfGEN): Applying Genomic technologies to probe host factors important to the progression of HIV and HIV-tuberculosis infection in sub-Saharan AfricaGerald Mboowa, Savannah Mwesigwa, Eric Katagirya, et al.
JCI Insight|May 8, 2024
Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertensionIan Copeland, Edmond Wonkam-Tingang, Monesha Gupta-Malhotra, et al.
NPJ Genomic Medicine|March 20, 2021
Unmapped exome reads implicate a role for Anelloviridae in childhood HIV-1 long-term non-progressionSavannah Mwesigwa, Lesedi Williams, Gaone Retshabile, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 5, 2022
A dominant negative variant of <i>RAB5B</i> disrupts maturation of surfactant protein B and surfactant protein CHuiyan Huang, Jiehong Pan, David R Spielberg, et al.
American Journal of Human Genetics|September 13, 2016
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in HumansFrancesco Vetrini, Lisa C A D'Alessandro, Zeynep C Akdemir, et al.
Nature Communications|May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activityLaure Asselin, José Rivera Alvarez, Solveig Heide, et al.
Pageof 7

Showing results (41-50 of 67) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|June 28, 2017
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic eventsNeil A Hanchard, Luis A Umana, Lisa D'Alessandro, et al.
American Journal of Human Genetics|November 4, 2023
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiationJonathan J Rios, Yang Li, Nandina Paria, et al.
Genome Medicine|April 25, 2019
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndromeClaudia M B Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, et al.
Genome Medicine|November 2, 2017
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patternsAlexander H Li, Neil A Hanchard, Dieter Furthner, et al.
AAS Open Research|February 5, 2019
The Collaborative African Genomics Network (CAfGEN): Applying Genomic technologies to probe host factors important to the progression of HIV and HIV-tuberculosis infection in sub-Saharan AfricaGerald Mboowa, Savannah Mwesigwa, Eric Katagirya, et al.
JCI Insight|May 8, 2024
Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertensionIan Copeland, Edmond Wonkam-Tingang, Monesha Gupta-Malhotra, et al.
NPJ Genomic Medicine|March 20, 2021
Unmapped exome reads implicate a role for Anelloviridae in childhood HIV-1 long-term non-progressionSavannah Mwesigwa, Lesedi Williams, Gaone Retshabile, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 5, 2022
A dominant negative variant of <i>RAB5B</i> disrupts maturation of surfactant protein B and surfactant protein CHuiyan Huang, Jiehong Pan, David R Spielberg, et al.
American Journal of Human Genetics|September 13, 2016
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in HumansFrancesco Vetrini, Lisa C A D'Alessandro, Zeynep C Akdemir, et al.
Nature Communications|May 17, 2020
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activityLaure Asselin, José Rivera Alvarez, Solveig Heide, et al.
Pageof 7