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 (61-70 of 153) with videos related to

Pageof 16
Sort By:
European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.
Human Molecular Genetics|August 14, 2003
Identification of SATB2 as the cleft palate gene on 2q32-q33David R FitzPatrick, Ian M Carr, Lorna McLaren, et al.
Science (New York, N.Y.)|September 6, 2008
Human-specific gain of function in a developmental enhancerShyam Prabhakar, Axel Visel, Jennifer A Akiyama, et al.
Epilepsia|March 15, 2006
Role of SOX2 mutations in human hippocampal malformations and epilepsySanjay M Sisodiya, Nicola K Ragge, Gianpiero L Cavalleri, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypesCharlotte Snijders Blok, Nicole Corsten-Janssen, David R FitzPatrick, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal motherLaurence Faivre, Kathleen A Williamson, Valérie Faber, et al.
American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Journal of Pediatric Genetics|August 9, 2020
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2Siulan Vendramini-Pittoli, Rosana Maria Candido-Souza, Rodrigo Gonçalves Quiezi, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Clinical utility gene card for: Cornelia de Lange syndromeFeliciano J Ramos, Beatriz Puisac, Carolina Baquero-Montoya, et al.
Plos Genetics|December 19, 2013
A trans-acting protein effect causes severe eye malformation in the Mp mouseJoe Rainger, Margaret Keighren, Douglas R Keene, et al.
Pageof 16

Showing results (61-70 of 153) with videos related to

Sort By:
Pageof 16
European Journal of Medical Genetics|December 5, 2016
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsMira Kharbanda, Daniela T Pilz, Susan Tomkins, et al.
Human Molecular Genetics|August 14, 2003
Identification of SATB2 as the cleft palate gene on 2q32-q33David R FitzPatrick, Ian M Carr, Lorna McLaren, et al.
Science (New York, N.Y.)|September 6, 2008
Human-specific gain of function in a developmental enhancerShyam Prabhakar, Axel Visel, Jennifer A Akiyama, et al.
Epilepsia|March 15, 2006
Role of SOX2 mutations in human hippocampal malformations and epilepsySanjay M Sisodiya, Nicola K Ragge, Gianpiero L Cavalleri, et al.
American Journal of Medical Genetics. Part A|September 25, 2014
Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypesCharlotte Snijders Blok, Nicole Corsten-Janssen, David R FitzPatrick, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal motherLaurence Faivre, Kathleen A Williamson, Valérie Faber, et al.
American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Journal of Pediatric Genetics|August 9, 2020
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2Siulan Vendramini-Pittoli, Rosana Maria Candido-Souza, Rodrigo Gonçalves Quiezi, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Clinical utility gene card for: Cornelia de Lange syndromeFeliciano J Ramos, Beatriz Puisac, Carolina Baquero-Montoya, et al.
Plos Genetics|December 19, 2013
A trans-acting protein effect causes severe eye malformation in the Mp mouseJoe Rainger, Margaret Keighren, Douglas R Keene, et al.
Pageof 16