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

David R Fitzpatrick

Showing results (21-30 of 153) with videos related to

Pageof 16
Sort By:
American Journal of Human Genetics|January 20, 2007
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1Birgitta Winnepenninckx, Kim Debacker, Jacqueline Ramsay, et al.
Journal of Immunology (Baltimore, Md. : 1950)|December 10, 2002
Murine plasmacytoid pre-dendritic cells generated from Flt3 ligand-supplemented bone marrow cultures are immature APCsPierre Brawand, David R Fitzpatrick, Brad W Greenfield, et al.
Elife|June 26, 2014
Diagnostically relevant facial gestalt information from ordinary photosQuentin Ferry, Julia Steinberg, Caleb Webber, et al.
Human Molecular Genetics|December 10, 2002
Transcriptome analysis of human autosomal trisomyDavid R FitzPatrick, Jacqueline Ramsay, Niolette I McGill, et al.
Clinical Chemistry|March 26, 2003
Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiencyRené Santer, Ralph Fingerhut, Uta Lässker, et al.
HGG Advances|December 23, 2022
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disordersStuart Aitken, Helen V Firth, Caroline F Wright, et al.
Nature Immunology|November 5, 2003
Active recruitment of DNA methyltransferases regulates interleukin 4 in thymocytes and T cellsKaren W Makar, Mercedes Pérez-Melgosa, Maria Shnyreva, et al.
European Journal of Medical Genetics|June 28, 2015
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutationDenise Horn, Trine Prescott, Gunnar Houge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
Evaluating variants classified as pathogenic in ClinVar in the DDD StudyCaroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, et al.
Clinical Dysmorphology|September 22, 2011
An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBLJennie E Murray, Muhammed Walayat, Peter Gillett, et al.
Pageof 16

Showing results (21-30 of 153) with videos related to

Sort By:
Pageof 16
American Journal of Human Genetics|January 20, 2007
CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1Birgitta Winnepenninckx, Kim Debacker, Jacqueline Ramsay, et al.
Journal of Immunology (Baltimore, Md. : 1950)|December 10, 2002
Murine plasmacytoid pre-dendritic cells generated from Flt3 ligand-supplemented bone marrow cultures are immature APCsPierre Brawand, David R Fitzpatrick, Brad W Greenfield, et al.
Elife|June 26, 2014
Diagnostically relevant facial gestalt information from ordinary photosQuentin Ferry, Julia Steinberg, Caleb Webber, et al.
Human Molecular Genetics|December 10, 2002
Transcriptome analysis of human autosomal trisomyDavid R FitzPatrick, Jacqueline Ramsay, Niolette I McGill, et al.
Clinical Chemistry|March 26, 2003
Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiencyRené Santer, Ralph Fingerhut, Uta Lässker, et al.
HGG Advances|December 23, 2022
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disordersStuart Aitken, Helen V Firth, Caroline F Wright, et al.
Nature Immunology|November 5, 2003
Active recruitment of DNA methyltransferases regulates interleukin 4 in thymocytes and T cellsKaren W Makar, Mercedes Pérez-Melgosa, Maria Shnyreva, et al.
European Journal of Medical Genetics|June 28, 2015
A Novel Oculo-Skeletal syndrome with intellectual disability caused by a particular MAB21L2 mutationDenise Horn, Trine Prescott, Gunnar Houge, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 5, 2020
Evaluating variants classified as pathogenic in ClinVar in the DDD StudyCaroline F Wright, Ruth Y Eberhardt, Panayiotis Constantinou, et al.
Clinical Dysmorphology|September 22, 2011
An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBLJennie E Murray, Muhammed Walayat, Peter Gillett, et al.
Pageof 16