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

Bernard Aral

Showing results (11-20 of 34) with videos related to

Pageof 4
Sort By:
American Journal of Medical Genetics. Part A|December 7, 2013
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutationsLucie Gueneau, Laurence Duplomb, Pierre Sarda, et al.
Molecular Cytogenetics|June 26, 2015
6q16.3q23.3 duplication associated with Prader-Willi-like syndromeLaurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1Estelle Lopez, Patrick Callier, Valérie Cormier-Daire, et al.
European Journal of Human Genetics : EJHG|November 29, 2012
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosisSalima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, et al.
European Journal of Medical Genetics|August 30, 2011
Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette Piard, Muriel Holder-Espinasse, Bernard Aral, et al.
Human Mutation|November 22, 2008
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencingChristel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, et al.
European Journal of Human Genetics : EJHG|October 16, 2014
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinomaJean-Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, et al.
European Journal of Medical Genetics|March 26, 2013
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndromeVéronique Darmency-Stamboul, Lydie Burglen, Estelle Lopez, et al.
Birth Defects Research|December 2, 2017
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetusesCaroline Alby, Lucile Boutaud, Maryse Bonnière, 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.
Pageof 4

Showing results (11-20 of 34) with videos related to

Sort By:
Pageof 4
American Journal of Medical Genetics. Part A|December 7, 2013
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutationsLucie Gueneau, Laurence Duplomb, Pierre Sarda, et al.
Molecular Cytogenetics|June 26, 2015
6q16.3q23.3 duplication associated with Prader-Willi-like syndromeLaurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1Estelle Lopez, Patrick Callier, Valérie Cormier-Daire, et al.
European Journal of Human Genetics : EJHG|November 29, 2012
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosisSalima El Chehadeh-Djebbar, Edward Blair, Muriel Holder-Espinasse, et al.
European Journal of Medical Genetics|August 30, 2011
Systematic search for neutropenia should be part of the first screening in patients with poikilodermaJuliette Piard, Muriel Holder-Espinasse, Bernard Aral, et al.
Human Mutation|November 22, 2008
Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencingChristel Thauvin-Robinet, Brunella Franco, Pascale Saugier-Veber, et al.
European Journal of Human Genetics : EJHG|October 16, 2014
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinomaJean-Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, et al.
European Journal of Medical Genetics|March 26, 2013
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndromeVéronique Darmency-Stamboul, Lydie Burglen, Estelle Lopez, et al.
Birth Defects Research|December 2, 2017
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetusesCaroline Alby, Lucile Boutaud, Maryse Bonnière, 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.
Pageof 4