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

Ann Swillen

Showing results (71-80 of 98) with videos related to

Pageof 10
Sort By:
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndromeLaurens Hannes, Marta Atzori, Alice Goldenberg, et al.
Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
Human Molecular Genetics|January 24, 2018
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2Tingwei Guo, Alexander Diacou, Hiroko Nomaru, et al.
Research Square|January 18, 2024
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and DuplicationsRuben Gur, Carrie Bearden, Sébastien Jacquemont, et al.
The American Journal of Psychiatry|March 3, 2022
Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and PsychopathologySébastien Jacquemont, Guillaume Huguet, Marieke Klein, et al.
Human Genetics|January 9, 2016
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndromeElisabeth E Mlynarski, Michael Xie, Deanne Taylor, et al.
Nature Medicine|January 23, 2003
VEGF: a modifier of the del22q11 (DiGeorge) syndrome?Ingeborg Stalmans, Diether Lambrechts, Frederik De Smet, et al.
Neurology|May 13, 2018
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2Erik Boot, Nancy J Butcher, Sean Udow, et al.
Human Molecular Genetics|December 1, 2006
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndromeGrégory Raux, Emilie Bumsel, Bernadette Hecketsweiler, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsSean B Herman, Tingwei Guo, Donna M McDonald McGinn, et al.
Pageof 10

Showing results (71-80 of 98) with videos related to

Sort By:
Pageof 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 30, 2023
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndromeLaurens Hannes, Marta Atzori, Alice Goldenberg, et al.
Human Mutation|July 29, 2011
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsTingwei Guo, Donna McDonald-McGinn, Anna Blonska, et al.
Human Molecular Genetics|January 24, 2018
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2Tingwei Guo, Alexander Diacou, Hiroko Nomaru, et al.
Research Square|January 18, 2024
Neurocognitive Profiles of 22q11.2 and 16p11.2 Deletions and DuplicationsRuben Gur, Carrie Bearden, Sébastien Jacquemont, et al.
The American Journal of Psychiatry|March 3, 2022
Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and PsychopathologySébastien Jacquemont, Guillaume Huguet, Marieke Klein, et al.
Human Genetics|January 9, 2016
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndromeElisabeth E Mlynarski, Michael Xie, Deanne Taylor, et al.
Nature Medicine|January 23, 2003
VEGF: a modifier of the del22q11 (DiGeorge) syndrome?Ingeborg Stalmans, Diether Lambrechts, Frederik De Smet, et al.
Neurology|May 13, 2018
Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2Erik Boot, Nancy J Butcher, Sean Udow, et al.
Human Molecular Genetics|December 1, 2006
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndromeGrégory Raux, Emilie Bumsel, Bernadette Hecketsweiler, et al.
American Journal of Medical Genetics. Part A|October 5, 2012
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patientsSean B Herman, Tingwei Guo, Donna M McDonald McGinn, et al.
Pageof 10