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

Raffaella Smith

Showing results (1-10 of 20) with videos related to

Pageof 2
Sort By:
Neuromuscular Disorders : NMD|July 8, 2008
Exclusion of biglycan mutations in a cohort of patients with neuromuscular disordersRachel A Peat, Jozef Gécz, Justin R Fallon, et al.
Human Genetics|April 12, 2008
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genesLane J Jaeckle Santos, Chao Xing, Robert B Barnes, et al.
Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Cancer Biology & Therapy|September 14, 2006
Recurrent KRAS codon 146 mutations in human colorectal cancerSarah Edkins, Sarah O'Meara, Adrian Parker, et al.
American Journal of Human Genetics|July 27, 2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityAnnabel C Whibley, Vincent Plagnol, Patrick S Tarpey, et al.
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.
Molecular Cancer Therapeutics|November 8, 2006
Mutation analysis of 24 known cancer genes in the NCI-60 cell line setOgechi N Ikediobi, Helen Davies, Graham Bignell, 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 7, 2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeKeith W McLarren, Tesa M Severson, Christèle du Souich, et al.
Genes, Chromosomes & Cancer|September 22, 2005
Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adultsGraham Bignell, Raffaella Smith, Chris Hunter, et al.
Pageof 2

Showing results (1-10 of 20) with videos related to

Sort By:
Pageof 2
Neuromuscular Disorders : NMD|July 8, 2008
Exclusion of biglycan mutations in a cohort of patients with neuromuscular disordersRachel A Peat, Jozef Gécz, Justin R Fallon, et al.
Human Genetics|April 12, 2008
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genesLane J Jaeckle Santos, Chao Xing, Robert B Barnes, et al.
Journal of Medical Genetics|September 16, 2009
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesKim Hynes, Patrick Tarpey, Leanne M Dibbens, et al.
Cancer Biology & Therapy|September 14, 2006
Recurrent KRAS codon 146 mutations in human colorectal cancerSarah Edkins, Sarah O'Meara, Adrian Parker, et al.
American Journal of Human Genetics|July 27, 2010
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disabilityAnnabel C Whibley, Vincent Plagnol, Patrick S Tarpey, et al.
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.
Molecular Cancer Therapeutics|November 8, 2006
Mutation analysis of 24 known cancer genes in the NCI-60 cell line setOgechi N Ikediobi, Helen Davies, Graham Bignell, 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 7, 2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeKeith W McLarren, Tesa M Severson, Christèle du Souich, et al.
Genes, Chromosomes & Cancer|September 22, 2005
Sequence analysis of the protein kinase gene family in human testicular germ-cell tumors of adolescents and adultsGraham Bignell, Raffaella Smith, Chris Hunter, et al.
Pageof 2