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

Newbury

Showing results (811-820 of 826) with videos related to

Pageof 83
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Neuro-Oncology|January 22, 2026
Intracranial mesenchymal tumor, FET::CREB fusion-positive: an integrative analysis of 81 casesSharika Rajan, Hye-Jung Chung, Zhichao Wu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
Nature Neuroscience|March 15, 2016
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disordersTarjinder Singh, Mitja I Kurki, David Curtis, et al.
Nature Genetics|August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.
Genetics in Medicine Open|January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.
Pageof 83

Showing results (811-820 of 826) with videos related to

Sort By:
Pageof 83
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 21, 2020
Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Neuro-Oncology|January 22, 2026
Intracranial mesenchymal tumor, FET::CREB fusion-positive: an integrative analysis of 81 casesSharika Rajan, Hye-Jung Chung, Zhichao Wu, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2018
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variantsJoanna Kennedy, David Goudie, Edward Blair, et al.
Plos One|April 29, 2016
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeMorad Ansari, Jacqueline Rainger, Isabel M Hanson, et al.
European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.
American Journal of Medical Genetics. Part A|August 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, et al.
American Journal of Human Genetics|March 2, 2005
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutationsJennifer J Johnston, Isabelle Olivos-Glander, Christina Killoran, et al.
Nature Neuroscience|March 15, 2016
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disordersTarjinder Singh, Mitja I Kurki, David Curtis, et al.
Nature Genetics|August 2, 2016
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencingAlejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, et al.
Genetics in Medicine Open|January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.
Pageof 83