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

H Dollfus

Showing results (61-70 of 72) with videos related to

Pageof 8
Sort By:
Nature Genetics|December 1, 1996
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosisI Perrault, J M Rozet, P Calvas, et al.
Human Mutation|April 3, 2007
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL de Pontual, A Pelet, M Clement-Ziza, et al.
Human Genetics|October 7, 2018
Implication of non-coding PAX6 mutations in aniridiaJulie Plaisancié, M Tarilonte, P Ramos, et al.
Journal of Medical Genetics|May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert, M Holder-Espinasse, S Spranger, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|August 29, 2012
[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]B Doray, D Badila-Timbolschi, E Schaefer, et al.
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Molecular Syndromology|December 23, 2011
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent PolydactylyE Schaefer, A Zaloszyc, J Lauer, et al.
Clinical Genetics|October 6, 2012
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairmentC Thauvin-Robinet, S Thomas, M Sinico, et al.
Human Genetics|February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous diseaseJean Muller, C Stoetzel, M C Vincent, et al.
Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.
Pageof 8

Showing results (61-70 of 72) with videos related to

Sort By:
Pageof 8
Nature Genetics|December 1, 1996
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosisI Perrault, J M Rozet, P Calvas, et al.
Human Mutation|April 3, 2007
Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung diseaseL de Pontual, A Pelet, M Clement-Ziza, et al.
Human Genetics|October 7, 2018
Implication of non-coding PAX6 mutations in aniridiaJulie Plaisancié, M Tarilonte, P Ramos, et al.
Journal of Medical Genetics|May 2, 2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndromeW Seifert, M Holder-Espinasse, S Spranger, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|August 29, 2012
[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)]B Doray, D Badila-Timbolschi, E Schaefer, et al.
American Journal of Medical Genetics|April 29, 1998
CHARGE syndrome: report of 47 cases and reviewA L Tellier, V Cormier-Daire, V Abadie, et al.
Molecular Syndromology|December 23, 2011
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent PolydactylyE Schaefer, A Zaloszyc, J Lauer, et al.
Clinical Genetics|October 6, 2012
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairmentC Thauvin-Robinet, S Thomas, M Sinico, et al.
Human Genetics|February 24, 2010
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous diseaseJean Muller, C Stoetzel, M C Vincent, et al.
Clinical Genetics|September 17, 2013
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmiaN Chassaing, A Causse, A Vigouroux, et al.
Pageof 8