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

Catherine Vincent

Showing results (111-120 of 188) with videos related to

Pageof 19
Sort By:
Human Mutation|December 26, 2001
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypePrateek A Gupta, Elizabeth A Putnam, Sonya G Carmical, et al.
Hepatology (Baltimore, Md.)|October 13, 2017
A randomized trial of obeticholic acid monotherapy in patients with primary biliary cholangitisKris V Kowdley, Velimir Luketic, Roger Chapman, et al.
Brain : a Journal of Neurology|February 7, 2013
Sensorineural hearing loss in OPA1-linked disordersStéphanie Leruez, Dan Milea, Sabine Defoort-Dhellemmes, et al.
American Journal of Medical Genetics. Part A|July 9, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 DeletionsRussell Gear, Paul Kalitsis, Melissa Glass, et al.
Gastroenterology|December 16, 2014
Efficacy of obeticholic acid in patients with primary biliary cirrhosis and inadequate response to ursodeoxycholic acidGideon M Hirschfield, Andrew Mason, Velimir Luketic, et al.
JMIR Research Protocols|March 22, 2024
Telehealth-Delivered Program and Accompanying Patients to Enhance the Clinical Condition of Patients Throughout a Liver Transplant: Protocol for a Mixed Methods StudyMarie-Pascale Pomey, Enora Le Roux, Nathalie Nadon, et al.
Annals of Neurology|September 17, 2014
Absent CNKSR2 causes seizures and intellectual, attention, and language deficitsAndrea K Vaags, Sarah Bowdin, Mary-Lou Smith, et al.
European Journal of Human Genetics : EJHG|April 28, 2011
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11Christian Wentzel, Evica Rajcan-Separovic, Claudia A L Ruivenkamp, et al.
Genome Research|February 20, 2016
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkNicolas Chassaing, Erica E Davis, Kelly L McKnight, et al.
Journal of Human Genetics|July 25, 2008
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndromeYoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
Pageof 19

Showing results (111-120 of 188) with videos related to

Sort By:
Pageof 19
Human Mutation|December 26, 2001
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotypePrateek A Gupta, Elizabeth A Putnam, Sonya G Carmical, et al.
Hepatology (Baltimore, Md.)|October 13, 2017
A randomized trial of obeticholic acid monotherapy in patients with primary biliary cholangitisKris V Kowdley, Velimir Luketic, Roger Chapman, et al.
Brain : a Journal of Neurology|February 7, 2013
Sensorineural hearing loss in OPA1-linked disordersStéphanie Leruez, Dan Milea, Sabine Defoort-Dhellemmes, et al.
American Journal of Medical Genetics. Part A|July 9, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 DeletionsRussell Gear, Paul Kalitsis, Melissa Glass, et al.
Gastroenterology|December 16, 2014
Efficacy of obeticholic acid in patients with primary biliary cirrhosis and inadequate response to ursodeoxycholic acidGideon M Hirschfield, Andrew Mason, Velimir Luketic, et al.
JMIR Research Protocols|March 22, 2024
Telehealth-Delivered Program and Accompanying Patients to Enhance the Clinical Condition of Patients Throughout a Liver Transplant: Protocol for a Mixed Methods StudyMarie-Pascale Pomey, Enora Le Roux, Nathalie Nadon, et al.
Annals of Neurology|September 17, 2014
Absent CNKSR2 causes seizures and intellectual, attention, and language deficitsAndrea K Vaags, Sarah Bowdin, Mary-Lou Smith, et al.
European Journal of Human Genetics : EJHG|April 28, 2011
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11Christian Wentzel, Evica Rajcan-Separovic, Claudia A L Ruivenkamp, et al.
Genome Research|February 20, 2016
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkNicolas Chassaing, Erica E Davis, Kelly L McKnight, et al.
Journal of Human Genetics|July 25, 2008
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndromeYoko Narumi, Yoko Aoki, Tetsuya Niihori, et al.
Pageof 19