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

Sarah B Daly

Showing results (1-10 of 16) with videos related to

Pageof 2
Sort By:
Blood|August 10, 2012
Minimal residual disease monitoring by quantitative RT-PCR in core binding factor AML allows risk stratification and predicts relapse: results of the United Kingdom MRC AML-15 trialJohn A Liu Yin, Michelle A O'Brien, Robert K Hills, et al.
Molecular Syndromology|October 23, 2014
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal ArthrogryposisSarah B Daly, Hitesh Shah, James O'Sullivan, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathyRajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|November 19, 2014
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutationsMiriam J Smith, Christian Beetz, Simon G Williams, et al.
American Journal of Human Genetics|May 10, 2011
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeJames O'Sullivan, Carolina C Bitu, Sarah B Daly, et al.
Genes, Chromosomes & Cancer|July 15, 2005
Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemiaDavid A Sweetser, Andrew J Peniket, Christina Haaland, et al.
American Journal of Human Genetics|August 24, 2010
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyriaMary C O'Driscoll, Sarah B Daly, Jill E Urquhart, et al.
Annals of the Rheumatic Diseases|January 21, 2014
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesisSiddharth Banka, Stuart A Cain, Sabrya Carim, et al.
Neurology|December 7, 2014
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosisMiriam J Smith, Bertand Isidor, Christian Beetz, et al.
American Journal of Human Genetics|June 22, 2010
Mutations in HPSE2 cause urofacial syndromeSarah B Daly, Jill E Urquhart, Emma Hilton, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Blood|August 10, 2012
Minimal residual disease monitoring by quantitative RT-PCR in core binding factor AML allows risk stratification and predicts relapse: results of the United Kingdom MRC AML-15 trialJohn A Liu Yin, Michelle A O'Brien, Robert K Hills, et al.
Molecular Syndromology|October 23, 2014
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal ArthrogryposisSarah B Daly, Hitesh Shah, James O'Sullivan, et al.
American Journal of Medical Genetics. Part A|March 23, 2017
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathyRajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|November 19, 2014
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutationsMiriam J Smith, Christian Beetz, Simon G Williams, et al.
American Journal of Human Genetics|May 10, 2011
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndromeJames O'Sullivan, Carolina C Bitu, Sarah B Daly, et al.
Genes, Chromosomes & Cancer|July 15, 2005
Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemiaDavid A Sweetser, Andrew J Peniket, Christina Haaland, et al.
American Journal of Human Genetics|August 24, 2010
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyriaMary C O'Driscoll, Sarah B Daly, Jill E Urquhart, et al.
Annals of the Rheumatic Diseases|January 21, 2014
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesisSiddharth Banka, Stuart A Cain, Sabrya Carim, et al.
Neurology|December 7, 2014
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosisMiriam J Smith, Bertand Isidor, Christian Beetz, et al.
American Journal of Human Genetics|June 22, 2010
Mutations in HPSE2 cause urofacial syndromeSarah B Daly, Jill E Urquhart, Emma Hilton, et al.
Pageof 2