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

Kate Chandler

Showing results (41-50 of 49) with videos related to

Pageof 5
Sort By:
You have reached the last page of results.This site can display upto 49 results.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2022
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profileReem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, 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.
European Journal of Human Genetics : EJHG|December 1, 2011
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumSiddharth Banka, Ratna Veeramachaneni, William Reardon, et al.
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.
Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, 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.
American Journal of Human Genetics|August 4, 2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingLot Snijders Blok, Erik Madsen, Jane Juusola, et al.
Pageof 5

Showing results (41-50 of 49) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 49 results.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 28, 2022
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profileReem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, 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.
European Journal of Human Genetics : EJHG|December 1, 2011
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrumSiddharth Banka, Ratna Veeramachaneni, William Reardon, et al.
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.
Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.
American Journal of Human Genetics|June 5, 2018
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental DisorderMargot R F Reijnders, Kerry A Miller, Mohsan Alvi, 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.
American Journal of Human Genetics|August 4, 2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingLot Snijders Blok, Erik Madsen, Jane Juusola, et al.
Pageof 5