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

C Binquet

Showing results (51-60 of 63) with videos related to

Pageof 7
Sort By:
BMC Health Services Research|April 21, 2023
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French settingA L Soilly, C Robert-Viard, C Besse, et al.
World Journal of Surgery|August 9, 2017
Histologically Proven Bronchial Neuroendocrine Tumors in MEN1: A GTE 51-Case Cohort StudyP Lecomte, C Binquet, M Le Bras, et al.
Clinical Genetics|October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type IS Saal, L Faivre, Bernard Aral, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterionL Faivre, G Collod-Beroud, B Callewaert, et al.
Journal of Medical Genetics|March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsL Faivre, G Collod-Beroud, A Child, 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.
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|November 3, 2009
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screeningC Thauvin-Robinet, A Munck, F Huet, et al.
Pageof 7

Showing results (51-60 of 63) with videos related to

Sort By:
Pageof 7
BMC Health Services Research|April 21, 2023
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French settingA L Soilly, C Robert-Viard, C Besse, et al.
World Journal of Surgery|August 9, 2017
Histologically Proven Bronchial Neuroendocrine Tumors in MEN1: A GTE 51-Case Cohort StudyP Lecomte, C Binquet, M Le Bras, et al.
Clinical Genetics|October 13, 2009
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type IS Saal, L Faivre, Bernard Aral, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterionL Faivre, G Collod-Beroud, B Callewaert, et al.
Journal of Medical Genetics|March 4, 2008
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probandsL Faivre, G Collod-Beroud, A Child, 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.
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|November 3, 2009
The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screeningC Thauvin-Robinet, A Munck, F Huet, et al.
Pageof 7