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

Christopher T Gordon

Showing results (21-30 of 84) with videos related to

Pageof 9
Sort By:
American Journal of Medical Genetics. Part A|August 6, 2013
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutationsYasuhiro Kido, Christopher T Gordon, Satoru Sakazume, et al.
Brain : a Journal of Neurology|December 22, 2020
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigreeNancy Vegas, Karen Low, Christopher C Y Mak, et al.
The Journal of Clinical Investigation|January 13, 2023
Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand bindingYukiko Kurihara, Toru Ekimoto, Christopher T Gordon, et al.
Plos Genetics|June 2, 2015
Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafishShipra Bhatia, Christopher T Gordon, Robert G Foster, et al.
Journal of Medical Genetics|September 4, 2023
Biallelic truncating variants in <i>VGLL2</i> cause syngnathia in humansValeria Agostini, Aude Tessier, Nabila Djaziri, et al.
Human Mutation|April 26, 2020
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida typeHuw B Thomas, Katherine A Wood, Weronika A Buczek, et al.
Clinical Dysmorphology|January 31, 2018
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian childrenKris P T Yu, Ho-Ming Luk, Christopher T Gordon, et al.
Bone|August 17, 2021
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defectsEleonora Palagano, Christopher T Gordon, Paolo Uva, et al.
European Journal of Medical Genetics|September 8, 2014
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAXMorad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
Human Mutation|October 12, 2013
Congenital heart defects in patients with deletions upstream of SOX9Marta Sanchez-Castro, Christopher T Gordon, Florence Petit, et al.
Pageof 9

Showing results (21-30 of 84) with videos related to

Sort By:
Pageof 9
American Journal of Medical Genetics. Part A|August 6, 2013
Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutationsYasuhiro Kido, Christopher T Gordon, Satoru Sakazume, et al.
Brain : a Journal of Neurology|December 22, 2020
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigreeNancy Vegas, Karen Low, Christopher C Y Mak, et al.
The Journal of Clinical Investigation|January 13, 2023
Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand bindingYukiko Kurihara, Toru Ekimoto, Christopher T Gordon, et al.
Plos Genetics|June 2, 2015
Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafishShipra Bhatia, Christopher T Gordon, Robert G Foster, et al.
Journal of Medical Genetics|September 4, 2023
Biallelic truncating variants in <i>VGLL2</i> cause syngnathia in humansValeria Agostini, Aude Tessier, Nabila Djaziri, et al.
Human Mutation|April 26, 2020
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida typeHuw B Thomas, Katherine A Wood, Weronika A Buczek, et al.
Clinical Dysmorphology|January 31, 2018
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian childrenKris P T Yu, Ho-Ming Luk, Christopher T Gordon, et al.
Bone|August 17, 2021
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defectsEleonora Palagano, Christopher T Gordon, Paolo Uva, et al.
European Journal of Medical Genetics|September 8, 2014
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAXMorad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
Human Mutation|October 12, 2013
Congenital heart defects in patients with deletions upstream of SOX9Marta Sanchez-Castro, Christopher T Gordon, Florence Petit, et al.
Pageof 9