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

Thomy de Ravel

Showing results (11-20 of 72) with videos related to

Pageof 8
Sort By:
European Journal of Medical Genetics|July 6, 2010
PPP2R2C, a gene disrupted in autosomal dominant intellectual disabilityLiesbeth Backx, Joris Vermeesch, Elly Pijkels, et al.
European Journal of Medical Genetics|July 5, 2008
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvementIsabelle Bailleul-Forestier, Ariane Berdal, Frans Vinckier, et al.
Prenatal Diagnosis|April 21, 2012
Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21Kenneth Carels, Luc De Catte, Philippe Moerman, et al.
Frontiers in Genetics|June 6, 2018
Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical ExperienceSimon Ardui, Valerie Race, Thomy de Ravel, et al.
European Journal of Medical Genetics|April 11, 2015
Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic featuresNathalie Fieremans, Hilde Van Esch, Thomy de Ravel, et al.
Frontiers in Neurology|October 10, 2022
Case report: Coexistence of myotonia congenita and Brugada syndrome in one familyAnn Cordenier, Anja Flamez, Thomy de Ravel, et al.
Orphanet Journal of Rare Diseases|February 22, 2014
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristicsHannah Verdin, Elena A Sorokina, Françoise Meire, et al.
American Journal of Ophthalmology|March 1, 2011
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformationsIrina Balikova, Thomy de Ravel, Carmen Ayuso, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 13, 2017
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequenceLore Winters, Evelien Van Hoof, Luc De Catte, et al.
European Heart Journal|March 27, 2007
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patientsBernard Thienpont, Luc Mertens, Thomy de Ravel, et al.
Pageof 8

Showing results (11-20 of 72) with videos related to

Sort By:
Pageof 8
European Journal of Medical Genetics|July 6, 2010
PPP2R2C, a gene disrupted in autosomal dominant intellectual disabilityLiesbeth Backx, Joris Vermeesch, Elly Pijkels, et al.
European Journal of Medical Genetics|July 5, 2008
The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvementIsabelle Bailleul-Forestier, Ariane Berdal, Frans Vinckier, et al.
Prenatal Diagnosis|April 21, 2012
Fetal pyelectasis and corkscrew-shaped ureters: an association observed in postmortem fetal imaging studies of osteochondrodysplasia and trisomy 21Kenneth Carels, Luc De Catte, Philippe Moerman, et al.
Frontiers in Genetics|June 6, 2018
Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical ExperienceSimon Ardui, Valerie Race, Thomy de Ravel, et al.
European Journal of Medical Genetics|April 11, 2015
Microdeletion of the escape genes KDM5C and IQSEC2 in a girl with severe intellectual disability and autistic featuresNathalie Fieremans, Hilde Van Esch, Thomy de Ravel, et al.
Frontiers in Neurology|October 10, 2022
Case report: Coexistence of myotonia congenita and Brugada syndrome in one familyAnn Cordenier, Anja Flamez, Thomy de Ravel, et al.
Orphanet Journal of Rare Diseases|February 22, 2014
Novel and recurrent PITX3 mutations in Belgian families with autosomal dominant congenital cataract and anterior segment dysgenesis have similar phenotypic and functional characteristicsHannah Verdin, Elena A Sorokina, Françoise Meire, et al.
American Journal of Ophthalmology|March 1, 2011
High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformationsIrina Balikova, Thomy de Ravel, Carmen Ayuso, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|May 13, 2017
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequenceLore Winters, Evelien Van Hoof, Luc De Catte, et al.
European Heart Journal|March 27, 2007
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patientsBernard Thienpont, Luc Mertens, Thomy de Ravel, et al.
Pageof 8