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

Ruth Armstrong

Showing results (41-50 of 61) with videos related to

Pageof 7
Sort By:
American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.
Human Mutation|October 6, 2009
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHDChristopher J Ricketts, Julia R Forman, Eleanor Rattenberry, et al.
Clinical Endocrinology|October 18, 2012
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paragangliomaMariam Jafri, James Whitworth, Eleanor Rattenberry, et al.
Journal of Cancer Research and Clinical Oncology|April 3, 2026
Improving the diagnosis of renal tumours of young people through integrated molecular analysisSarah M Leiter, Aisosa O Guobadia, Ben Fleming, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
European Journal of Human Genetics : EJHG|August 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansionsJulia Volpi, Xiaonan Zhao, Nichole Owen, et al.
American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
European Journal of Human Genetics : EJHG|September 6, 2023
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous returnEmily A Huth, Xiaonan Zhao, Nichole Owen, et al.
European Journal of Human Genetics : EJHG|January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotypeMeena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.
American Journal of Human Genetics|June 19, 2018
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor PhenotypesJames Whitworth, Philip S Smith, Jose-Ezequiel Martin, et al.
Pageof 7

Showing results (41-50 of 61) with videos related to

Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|July 18, 2019
PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new casesLucy Bownass, Stephen Abbs, Ruth Armstrong, et al.
Human Mutation|October 6, 2009
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHDChristopher J Ricketts, Julia R Forman, Eleanor Rattenberry, et al.
Clinical Endocrinology|October 18, 2012
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paragangliomaMariam Jafri, James Whitworth, Eleanor Rattenberry, et al.
Journal of Cancer Research and Clinical Oncology|April 3, 2026
Improving the diagnosis of renal tumours of young people through integrated molecular analysisSarah M Leiter, Aisosa O Guobadia, Ben Fleming, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
European Journal of Human Genetics : EJHG|August 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansionsJulia Volpi, Xiaonan Zhao, Nichole Owen, et al.
American Journal of Human Genetics|January 3, 2017
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal DiseaseKeren J Carss, Gavin Arno, Marie Erwood, et al.
European Journal of Human Genetics : EJHG|September 6, 2023
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous returnEmily A Huth, Xiaonan Zhao, Nichole Owen, et al.
European Journal of Human Genetics : EJHG|January 13, 2021
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotypeMeena Balasubramanian, Alexander J M Dingemans, Shadi Albaba, et al.
American Journal of Human Genetics|June 19, 2018
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor PhenotypesJames Whitworth, Philip S Smith, Jose-Ezequiel Martin, et al.
Pageof 7