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Michael A Simpson

Showing results (51-60 of 168) with videos related to

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Molecular Genetics & Genomic Medicine|October 6, 2015
EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid featuresRebecca Ganetzky, Erin Finn, Atrish Bagchi, et al.
Journal of Dermatological Science|December 13, 2017
Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragilityJohn Y W Lee, Assem Farag, Amira Tawdy, et al.
Journal of Medical Genetics|January 27, 2011
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotypePia Ostergaard, Michael A Simpson, Glen Brice, et al.
The Journal of Investigative Dermatology|November 16, 2017
Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp HairThiviyani Maruthappu, Lisa A McGinty, Diana C Blaydon, et al.
Experimental Dermatology|November 28, 2013
Impact of next generation sequencing on diagnostics in a genetic skin disease clinicTakuya Takeichi, Arti Nanda, Lu Liu, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|July 3, 2019
Frequency of Pathogenic Germline Variants in <i>CDH1, BRCA2, CHEK2, PALB2, BRCA1</i>, and <i>TP53</i> in Sporadic Lobular Breast CancerChristos Petridis, Iteeka Arora, Vandna Shah, et al.
The Journal of Investigative Dermatology|December 3, 2019
Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and HypotrichosisAlexandros Onoufriadis, Noha Ahmed, Hagar Bessar, et al.
Breast Cancer Research : BCR|May 8, 2019
Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 yearsChristos Petridis, Iteeka Arora, Vandna Shah, et al.
Breast Cancer Research : BCR|January 19, 2017
PIK3CA mutations are common in lobular carcinoma in situ, but are not a biomarker of progressionVandna Shah, Salpie Nowinski, Dina Levi, et al.
Gut|May 1, 2012
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genesKatja Christodoulou, Anthony E Wiskin, Jane Gibson, et al.
Pageof 17

Showing results (51-60 of 168) with videos related to

Sort By:
Pageof 17
Molecular Genetics & Genomic Medicine|October 6, 2015
EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid featuresRebecca Ganetzky, Erin Finn, Atrish Bagchi, et al.
Journal of Dermatological Science|December 13, 2017
Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragilityJohn Y W Lee, Assem Farag, Amira Tawdy, et al.
Journal of Medical Genetics|January 27, 2011
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotypePia Ostergaard, Michael A Simpson, Glen Brice, et al.
The Journal of Investigative Dermatology|November 16, 2017
Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp HairThiviyani Maruthappu, Lisa A McGinty, Diana C Blaydon, et al.
Experimental Dermatology|November 28, 2013
Impact of next generation sequencing on diagnostics in a genetic skin disease clinicTakuya Takeichi, Arti Nanda, Lu Liu, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|July 3, 2019
Frequency of Pathogenic Germline Variants in <i>CDH1, BRCA2, CHEK2, PALB2, BRCA1</i>, and <i>TP53</i> in Sporadic Lobular Breast CancerChristos Petridis, Iteeka Arora, Vandna Shah, et al.
The Journal of Investigative Dermatology|December 3, 2019
Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and HypotrichosisAlexandros Onoufriadis, Noha Ahmed, Hagar Bessar, et al.
Breast Cancer Research : BCR|May 8, 2019
Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 yearsChristos Petridis, Iteeka Arora, Vandna Shah, et al.
Breast Cancer Research : BCR|January 19, 2017
PIK3CA mutations are common in lobular carcinoma in situ, but are not a biomarker of progressionVandna Shah, Salpie Nowinski, Dina Levi, et al.
Gut|May 1, 2012
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genesKatja Christodoulou, Anthony E Wiskin, Jane Gibson, et al.
Pageof 17