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Benjamin B Roa

Showing results (11-20 of 33) with videos related to

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Cancer|January 14, 2014
Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancerPriscilla H Fernandes, Jennifer Saam, Jenny Peterson, et al.
Cancer|May 1, 2012
Clinical significance of large rearrangements in BRCA1 and BRCA2Thaddeus Judkins, Eric Rosenthal, Christopher Arnell, et al.
American Journal of Medical Genetics. Part A|October 17, 2006
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controlsHsiao-Yuan Tang, Ping Fang, Patricia A Ward, et al.
Frontiers in Oncology|February 16, 2023
Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndromeShujuan Pan, Hannah Cox, Jamie Willmott, et al.
Future Oncology (London, England)|August 17, 2018
Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzleKarla R Bowles, Debora Mancini-DiNardo, Bradford Coffee, et al.
BMC Medical Genomics|October 19, 2019
Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencingDebora Mancini-DiNardo, Thaddeus Judkins, John Kidd, et al.
Gastroenterology|May 19, 2015
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch SyndromeMatthew B Yurgelun, Brian Allen, Rajesh R Kaldate, et al.
BMJ Open|May 21, 2015
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathyHsiao-Yuan Tang, Ping Fang, Jerry W Lin, et al.
Cancer Genetics|October 14, 2017
Identification of pathogenic retrotransposon insertions in cancer predisposition genesYaping Qian, Debora Mancini-DiNardo, Thaddeus Judkins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 17, 2004
Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutationInge M Buyse, Sarah E McCarthy, Paul Lurix, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Cancer|January 14, 2014
Comprehensive sequencing of PALB2 in patients with breast cancer suggests PALB2 mutations explain a subset of hereditary breast cancerPriscilla H Fernandes, Jennifer Saam, Jenny Peterson, et al.
Cancer|May 1, 2012
Clinical significance of large rearrangements in BRCA1 and BRCA2Thaddeus Judkins, Eric Rosenthal, Christopher Arnell, et al.
American Journal of Medical Genetics. Part A|October 17, 2006
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controlsHsiao-Yuan Tang, Ping Fang, Patricia A Ward, et al.
Frontiers in Oncology|February 16, 2023
Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndromeShujuan Pan, Hannah Cox, Jamie Willmott, et al.
Future Oncology (London, England)|August 17, 2018
Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzleKarla R Bowles, Debora Mancini-DiNardo, Bradford Coffee, et al.
BMC Medical Genomics|October 19, 2019
Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencingDebora Mancini-DiNardo, Thaddeus Judkins, John Kidd, et al.
Gastroenterology|May 19, 2015
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch SyndromeMatthew B Yurgelun, Brian Allen, Rajesh R Kaldate, et al.
BMJ Open|May 21, 2015
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathyHsiao-Yuan Tang, Ping Fang, Jerry W Lin, et al.
Cancer Genetics|October 14, 2017
Identification of pathogenic retrotransposon insertions in cancer predisposition genesYaping Qian, Debora Mancini-DiNardo, Thaddeus Judkins, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 17, 2004
Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutationInge M Buyse, Sarah E McCarthy, Paul Lurix, et al.
Pageof 4