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

Frances Flinter

Showing results (51-60 of 63) with videos related to

Pageof 7
Sort By:
European Journal of Human Genetics : EJHG|January 23, 2023
Correction: The 2019 and 2021 International workshops on Alport syndromeSergio Daga, Jie Ding, Constantinos Deltas, et al.
Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Journal of Medical Genetics|April 14, 2016
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditionsMaria Tropeano, Deirdre Howley, Matthew J Gazzellone, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 19, 2016
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport SyndromeOliver Gross, Clifford E Kashtan, Michelle N Rheault, et al.
American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
Pageof 7

Showing results (51-60 of 63) with videos related to

Sort By:
Pageof 7
European Journal of Human Genetics : EJHG|January 23, 2023
Correction: The 2019 and 2021 International workshops on Alport syndromeSergio Daga, Jie Ding, Constantinos Deltas, et al.
Human Mutation|September 17, 2020
Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBPKatherine C MacKenzie, Bianca M de Graaf, Andreas Syrimis, et al.
Journal of Medical Genetics|April 14, 2016
Microduplications at the pseudoautosomal SHOX locus in autism spectrum disorders and related neurodevelopmental conditionsMaria Tropeano, Deirdre Howley, Matthew J Gazzellone, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 24, 2020
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndromeSara Cuvertino, Verity Hartill, Alice Colyer, et al.
American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 19, 2016
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport SyndromeOliver Gross, Clifford E Kashtan, Michelle N Rheault, et al.
American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.
Pageof 7