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

D Chitayat

Showing results (191-200 of 211) with videos related to

Pageof 22
Sort By:
Human Mutation|January 1, 1997
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)R A Spritz, J Oh, K Fukai, et al.
Teratology|November 25, 2000
Birth defects after maternal exposure to corticosteroids: prospective cohort study and meta-analysis of epidemiological studiesL Park-Wyllie, P Mazzotta, A Pastuszak, et al.
Prenatal Diagnosis|March 8, 2006
Isodicentric Yp: prenatal diagnosis and outcome in 12 casesH Bruyère, M D Speevak, E J T Winsor, et al.
Journal of Medical Genetics|October 15, 2016
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the <i>ERF</i> geneM Balasubramanian, H Lord, S Levesque, et al.
Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, et al.
Prenatal Diagnosis|November 13, 2013
Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatallyM A Dempsey, A E Knight Johnson, B S Swope, et al.
American Journal of Human Genetics|May 12, 2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon, G E Tiller, M Le Merrer, 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.
Nature Genetics|March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesisY Gong, D Krakow, J Marcelino, et al.
Neurology|January 1, 1996
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patientsI Silveira, I Lopes-Cendes, S Kish, et al.
Pageof 22

Showing results (191-200 of 211) with videos related to

Sort By:
Pageof 22
Human Mutation|January 1, 1997
Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1)R A Spritz, J Oh, K Fukai, et al.
Teratology|November 25, 2000
Birth defects after maternal exposure to corticosteroids: prospective cohort study and meta-analysis of epidemiological studiesL Park-Wyllie, P Mazzotta, A Pastuszak, et al.
Prenatal Diagnosis|March 8, 2006
Isodicentric Yp: prenatal diagnosis and outcome in 12 casesH Bruyère, M D Speevak, E J T Winsor, et al.
Journal of Medical Genetics|October 15, 2016
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the <i>ERF</i> geneM Balasubramanian, H Lord, S Levesque, et al.
Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, et al.
Prenatal Diagnosis|November 13, 2013
Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatallyM A Dempsey, A E Knight Johnson, B S Swope, et al.
American Journal of Human Genetics|May 12, 2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon, G E Tiller, M Le Merrer, 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.
Nature Genetics|March 18, 1999
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesisY Gong, D Krakow, J Marcelino, et al.
Neurology|January 1, 1996
Frequency of spinocerebellar ataxia type 1, dentatorubropallidoluysian atrophy, and Machado-Joseph disease mutations in a large group of spinocerebellar ataxia patientsI Silveira, I Lopes-Cendes, S Kish, et al.
Pageof 22