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Christine M Eng

Showing results (81-90 of 100) with videos related to

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American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.
NPJ Genomic Medicine|December 8, 2021
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalitiesVolkan Okur, Zefu Chen, Liesbeth Vossaert, et al.
Human Genetics|June 30, 2017
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
Human Genetics|March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
JAMA Oncology|January 30, 2016
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid TumorsD Williams Parsons, Angshumoy Roy, Yaping Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2026
An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community settingBo Yuan, Layla A Abushamat, Stacey Pereira, et al.
The New England Journal of Medicine|October 11, 2018
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseKimberly Splinter, David R Adams, Carlos A Bacino, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Pageof 10

Showing results (81-90 of 100) with videos related to

Sort By:
Pageof 10
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
American Journal of Human Genetics|July 3, 2018
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic FeaturesMari J Tokita, Chun-An Chen, David Chitayat, et al.
NPJ Genomic Medicine|December 8, 2021
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalitiesVolkan Okur, Zefu Chen, Liesbeth Vossaert, et al.
Human Genetics|June 30, 2017
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
Human Genetics|March 3, 2017
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic featuresJing Zhang, Tomasz Gambin, Bo Yuan, et al.
JAMA Oncology|January 30, 2016
Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid TumorsD Williams Parsons, Angshumoy Roy, Yaping Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2026
An integrated cardiometabolic genetic testing program in a predominantly Hispanic population within a community settingBo Yuan, Layla A Abushamat, Stacey Pereira, et al.
The New England Journal of Medicine|October 11, 2018
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed DiseaseKimberly Splinter, David R Adams, Carlos A Bacino, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeSeema R Lalani, Jing Zhang, Christian P Schaaf, et al.
Genome Medicine|March 23, 2017
Lessons learned from additional research analyses of unsolved clinical exome casesMohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, et al.
Pageof 10