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Benjamin B Roa

Showing results (21-30 of 33) with videos related to

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Breast Cancer Research and Treatment|August 3, 2014
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genesDmitry Pruss, Brian Morris, Elisha Hughes, et al.
Nature Genetics|September 24, 2002
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathyHiroshi Takashima, Cornelius F Boerkoel, Joy John, et al.
JAMA Network Open|July 2, 2020
Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer GenesShannon Gallagher, Elisha Hughes, Susanne Wagner, et al.
American Journal of Human Genetics|May 6, 2004
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10Tohru Matsuura, Ping Fang, Xi Lin, et al.
American Journal of Human Genetics|June 1, 2005
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGSRoberto Mendoza-Londono, Edward Lammer, Rosemarie Watson, et al.
The Journal of Investigative Dermatology|January 8, 2004
A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafnessChester W Brown, Moise L Levy, Catherine M Flaitz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United StatesKit Sing Au, Aimee T Williams, E Steve Roach, et al.
Cancer|October 22, 2016
An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic neviLoren E Clarke, Darl D Flake, Klaus Busam, et al.
Human Molecular Genetics|June 9, 2012
Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assayKajal Biswas, Ranabir Das, Julie M Eggington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridizationTrilochan Sahoo, Sau Wai Cheung, Patricia Ward, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
Breast Cancer Research and Treatment|August 3, 2014
Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genesDmitry Pruss, Brian Morris, Elisha Hughes, et al.
Nature Genetics|September 24, 2002
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathyHiroshi Takashima, Cornelius F Boerkoel, Joy John, et al.
JAMA Network Open|July 2, 2020
Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer GenesShannon Gallagher, Elisha Hughes, Susanne Wagner, et al.
American Journal of Human Genetics|May 6, 2004
Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10Tohru Matsuura, Ping Fang, Xi Lin, et al.
American Journal of Human Genetics|June 1, 2005
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGSRoberto Mendoza-Londono, Edward Lammer, Rosemarie Watson, et al.
The Journal of Investigative Dermatology|January 8, 2004
A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafnessChester W Brown, Moise L Levy, Catherine M Flaitz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2007
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United StatesKit Sing Au, Aimee T Williams, E Steve Roach, et al.
Cancer|October 22, 2016
An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic neviLoren E Clarke, Darl D Flake, Klaus Busam, et al.
Human Molecular Genetics|June 9, 2012
Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assayKajal Biswas, Ranabir Das, Julie M Eggington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2006
Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridizationTrilochan Sahoo, Sau Wai Cheung, Patricia Ward, et al.
Pageof 4