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 (81-90 of 153) with videos related to

Pageof 16
Sort By:
Plos Genetics|April 26, 2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, et al.
Human Molecular Genetics|December 24, 2013
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequenceJacqueline K Rainger, Shipra Bhatia, Hemant Bengani, et al.
Journal of the American College of Cardiology|March 17, 2018
Cardiac Genetic Predisposition in Sudden Infant Death SyndromeDavid J Tester, Leonie C H Wong, Pritha Chanana, et al.
American Journal of Medical Genetics. Part A|April 7, 2005
SOX2 anophthalmia syndromeNicola K Ragge, Birgit Lorenz, Adele Schneider, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
Cornelia de Lange syndrome: extending the physical and psychological phenotypeChris Oliver, Maria Francesca Bedeschi, Natalie Blagowidow, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growthSally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disordersCaroline F Wright, Jeremy F McRae, Stephen Clayton, et al.
Human Molecular Genetics|March 18, 2006
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndromeKathleen A Williamson, Ann M Hever, Joe Rainger, et al.
Human Molecular Genetics|February 25, 2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant colobomaChunqiao Liu, Sonya A Widen, Kathleen A Williamson, et al.
American Journal of Human Genetics|January 28, 2014
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson, Joe Rainger, James A B Floyd, et al.
Pageof 16

Showing results (81-90 of 153) with videos related to

Sort By:
Pageof 16
Plos Genetics|April 26, 2014
FRA2A is a CGG repeat expansion associated with silencing of AFF3Sofie Metsu, Liesbeth Rooms, Jacqueline Rainger, et al.
Human Molecular Genetics|December 24, 2013
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequenceJacqueline K Rainger, Shipra Bhatia, Hemant Bengani, et al.
Journal of the American College of Cardiology|March 17, 2018
Cardiac Genetic Predisposition in Sudden Infant Death SyndromeDavid J Tester, Leonie C H Wong, Pritha Chanana, et al.
American Journal of Medical Genetics. Part A|April 7, 2005
SOX2 anophthalmia syndromeNicola K Ragge, Birgit Lorenz, Adele Schneider, et al.
American Journal of Medical Genetics. Part A|April 29, 2010
Cornelia de Lange syndrome: extending the physical and psychological phenotypeChris Oliver, Maria Francesca Bedeschi, Natalie Blagowidow, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growthSally Ann Lynch, Nicola Foulds, Ann-Charlotte Thuresson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disordersCaroline F Wright, Jeremy F McRae, Stephen Clayton, et al.
Human Molecular Genetics|March 18, 2006
Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndromeKathleen A Williamson, Ann M Hever, Joe Rainger, et al.
Human Molecular Genetics|February 25, 2016
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant colobomaChunqiao Liu, Sonya A Widen, Kathleen A Williamson, et al.
American Journal of Human Genetics|January 28, 2014
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defectsKathleen A Williamson, Joe Rainger, James A B Floyd, et al.
Pageof 16