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 (91-100 of 153) with videos related to

Pageof 16
Sort By:
Journal of Medical Genetics|December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridiaHildegard Nikki Hall, David Parry, Mihail Halachev, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
Nature|September 28, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disordersMari E K Niemi, Hilary C Martin, Daniel L Rice, et al.
Plos Genetics|December 6, 2005
Medical sequencing of candidate genes for nonsyndromic cleft lip and palateAlexandre R Vieira, Joseph R Avila, Sandra Daack-Hirsch, et al.
American Journal of Human Genetics|May 27, 2005
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt, James Cox, John Barber, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Nature Communications|January 28, 2021
The contribution of X-linked coding variation to severe developmental disordersHilary C Martin, Eugene J Gardner, Kaitlin E Samocha, et al.
Nature Genetics|May 10, 2011
Mutations in CEP57 cause mosaic variegated aneuploidy syndromeKatie Snape, Sandra Hanks, Elise Ruark, et al.
Science (New York, N.Y.)|October 26, 2013
Fine tuning of craniofacial morphology by distant-acting enhancersCatia Attanasio, Alex S Nord, Yiwen Zhu, et al.
Pageof 16

Showing results (91-100 of 153) with videos related to

Sort By:
Pageof 16
Journal of Medical Genetics|December 5, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridiaHildegard Nikki Hall, David Parry, Mihail Halachev, et al.
Journal of Medical Genetics|January 20, 2023
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disordersEva Lenassi, Ana Carvalho, Anja Thormann, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
Nature|September 28, 2018
Common genetic variants contribute to risk of rare severe neurodevelopmental disordersMari E K Niemi, Hilary C Martin, Daniel L Rice, et al.
Plos Genetics|December 6, 2005
Medical sequencing of candidate genes for nonsyndromic cleft lip and palateAlexandre R Vieira, Joseph R Avila, Sandra Daack-Hirsch, et al.
American Journal of Human Genetics|May 27, 2005
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndromeLionel Willatt, James Cox, John Barber, et al.
Nature Communications|October 13, 2019
Contribution of retrotransposition to developmental disordersEugene J Gardner, Elena Prigmore, Giuseppe Gallone, et al.
Nature Communications|January 28, 2021
The contribution of X-linked coding variation to severe developmental disordersHilary C Martin, Eugene J Gardner, Kaitlin E Samocha, et al.
Nature Genetics|May 10, 2011
Mutations in CEP57 cause mosaic variegated aneuploidy syndromeKatie Snape, Sandra Hanks, Elise Ruark, et al.
Science (New York, N.Y.)|October 26, 2013
Fine tuning of craniofacial morphology by distant-acting enhancersCatia Attanasio, Alex S Nord, Yiwen Zhu, et al.
Pageof 16