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

Gillian Turner

Showing results (41-50 of 53) with videos related to

Pageof 6
Sort By:
American Journal of Human Genetics|March 18, 2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGregor D Gilfillan, Kaja K Selmer, Ingrid Roxrud, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
The Lancet. Oncology|December 15, 2010
Sensitivity of transvaginal ultrasound screening for endometrial cancer in postmenopausal women: a case-control study within the UKCTOCS cohortIan Jacobs, Aleksandra Gentry-Maharaj, Matthew Burnell, et al.
American Journal of Human Genetics|June 9, 2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationPatrick Tarpey, Josep Parnau, Matthew Blow, et al.
Nature Genetics|November 25, 2003
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationVera M Kalscheuer, Kristine Freude, Luciana Musante, et al.
American Journal of Human Genetics|February 7, 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen, Mark Corbett, Joke Vandewalle, et al.
Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
American Journal of Human Genetics|April 17, 2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusF Lucy Raymond, Patrick S Tarpey, Sarah Edkins, et al.
American Journal of Human Genetics|August 2, 2007
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyMichael Field, Patrick S Tarpey, Raffaella Smith, et al.
American Journal of Human Genetics|December 23, 2006
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationPatrick S Tarpey, Claire Stevens, Jon Teague, et al.
Pageof 6

Showing results (41-50 of 53) with videos related to

Sort By:
Pageof 6
American Journal of Human Genetics|March 18, 2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGregor D Gilfillan, Kaja K Selmer, Ingrid Roxrud, et al.
European Journal of Human Genetics : EJHG|April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.
The Lancet. Oncology|December 15, 2010
Sensitivity of transvaginal ultrasound screening for endometrial cancer in postmenopausal women: a case-control study within the UKCTOCS cohortIan Jacobs, Aleksandra Gentry-Maharaj, Matthew Burnell, et al.
American Journal of Human Genetics|June 9, 2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationPatrick Tarpey, Josep Parnau, Matthew Blow, et al.
Nature Genetics|November 25, 2003
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationVera M Kalscheuer, Kristine Freude, Luciana Musante, et al.
American Journal of Human Genetics|February 7, 2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardationGuy Froyen, Mark Corbett, Joke Vandewalle, et al.
Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
American Journal of Human Genetics|April 17, 2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitusF Lucy Raymond, Patrick S Tarpey, Sarah Edkins, et al.
American Journal of Human Genetics|August 2, 2007
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyMichael Field, Patrick S Tarpey, Raffaella Smith, et al.
American Journal of Human Genetics|December 23, 2006
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationPatrick S Tarpey, Claire Stevens, Jon Teague, et al.
Pageof 6