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

L Faivre

Showing results (111-120 of 131) with videos related to

Pageof 14
Sort By:
Clinical Genetics|December 25, 2015
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndromeM Nizon, M Henry, C Michot, et al.
Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.
Clinical Genetics|December 15, 2017
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansionA T G Chiu, S L C Pei, C C Y Mak, et al.
European Journal of Human Genetics : EJHG|November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationL Faivre, G Collod-Beroud, B Callewaert, et al.
Clinical Genetics|May 14, 2011
The new Ghent criteria for Marfan syndrome: what do they change?L Faivre, G Collod-Beroud, L Adès, et al.
Journal of Medical Genetics|June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speechC Bonnet, J Andrieux, M Béri-Dexheimer, et al.
American Journal of Human Genetics|August 19, 2007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyL Faivre, G Collod-Beroud, B L Loeys, et al.
European Journal of Medical Genetics|August 31, 2018
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literatureJ Delanne, S Nambot, A Chassagne, et al.
Journal of Medical Genetics|September 5, 2006
The contribution of germline rearrangements to the spectrum of BRCA2 mutationsF Casilli, I Tournier, O M Sinilnikova, et al.
Clinical Genetics|March 19, 2010
Delineation of 15q13.3 microdeletionsA Masurel-Paulet, J Andrieux, P Callier, et al.
Pageof 14

Showing results (111-120 of 131) with videos related to

Sort By:
Pageof 14
Clinical Genetics|December 25, 2015
A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndromeM Nizon, M Henry, C Michot, et al.
Clinical Genetics|March 16, 2017
Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutationsN Lehman, A C Mazery, A Visier, et al.
Clinical Genetics|December 15, 2017
Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansionA T G Chiu, S L C Pei, C C Y Mak, et al.
European Journal of Human Genetics : EJHG|November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutationL Faivre, G Collod-Beroud, B Callewaert, et al.
Clinical Genetics|May 14, 2011
The new Ghent criteria for Marfan syndrome: what do they change?L Faivre, G Collod-Beroud, L Adès, et al.
Journal of Medical Genetics|June 5, 2010
Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speechC Bonnet, J Andrieux, M Béri-Dexheimer, et al.
American Journal of Human Genetics|August 19, 2007
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international studyL Faivre, G Collod-Beroud, B L Loeys, et al.
European Journal of Medical Genetics|August 31, 2018
Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literatureJ Delanne, S Nambot, A Chassagne, et al.
Journal of Medical Genetics|September 5, 2006
The contribution of germline rearrangements to the spectrum of BRCA2 mutationsF Casilli, I Tournier, O M Sinilnikova, et al.
Clinical Genetics|March 19, 2010
Delineation of 15q13.3 microdeletionsA Masurel-Paulet, J Andrieux, P Callier, et al.
Pageof 14