Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Susan M Hiatt

Showing results (21-30 of 42) with videos related to

Pageof 5
Sort By:
American Journal of Human Genetics|December 27, 2016
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismFrederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Molecular Genetics & Genomic Medicine|August 23, 2018
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experienceKathryn M Porter, Tia L Kauffman, Barbara A Koenig, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
Neuron|November 20, 2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsRatna Tripathy, Ines Leca, Tessa van Dijk, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2021
Genome sequencing as a first-line diagnostic test for hospitalized infantsKevin M Bowling, Michelle L Thompson, Candice R Finnila, et al.
Nucleic Acids Research|November 13, 2013
Current status and new features of the Consensus Coding Sequence databaseCatherine M Farrell, Nuala A O'Leary, Rachel A Harte, et al.
Brain : a Journal of Neurology|July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain sizeDiana Le Duc, Cecilia Giulivi, Susan M Hiatt, et al.
Journal of Personalized Medicine|July 29, 2023
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care UnitAmy A Lemke, Michelle L Thompson, Emily C Gimpel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, et al.
Pageof 5

Showing results (21-30 of 42) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|December 27, 2016
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismFrederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, et al.
Human Genetics|May 10, 2018
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderLot Snijders Blok, Susan M Hiatt, Kevin M Bowling, et al.
Molecular Genetics & Genomic Medicine|August 23, 2018
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experienceKathryn M Porter, Tia L Kauffman, Barbara A Koenig, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
Neuron|November 20, 2018
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical MalformationsRatna Tripathy, Ines Leca, Tessa van Dijk, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2021
Genome sequencing as a first-line diagnostic test for hospitalized infantsKevin M Bowling, Michelle L Thompson, Candice R Finnila, et al.
Nucleic Acids Research|November 13, 2013
Current status and new features of the Consensus Coding Sequence databaseCatherine M Farrell, Nuala A O'Leary, Rachel A Harte, et al.
Brain : a Journal of Neurology|July 22, 2019
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain sizeDiana Le Duc, Cecilia Giulivi, Susan M Hiatt, et al.
Journal of Personalized Medicine|July 29, 2023
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care UnitAmy A Lemke, Michelle L Thompson, Emily C Gimpel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureErin Torti, Boris Keren, Elizabeth E Palmer, et al.
Pageof 5