نتائج البحث - Roa, Benjamin B. 

Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms حسب Buyse, Inge M., Fang, Ping, Hoon, Katherine T., Amir, Ruthie E., Zoghbi, Huda Y., Roa, Benjamin B.

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Interruptions in the Expanded ATTCT Repeat of Spinocerebellar Ataxia Type 10: Repeat Purity as a Disease Modifier? حسب Matsuura, Tohru, Fang, Ping, Pearson, Christopher E., Jayakar, Parul, Ashizawa, Tetsuo, Roa, Benjamin B., Nelson, David L.

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A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically حسب Coffee, Bradford, Cox, Hannah C., Bernhisel, Ryan, Manley, Susan, Bowles, Karla, Roa, Benjamin B., Mancini‐DiNardo, Debora

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Infrequency of Two Deletion Mutations at the DFNB1 Locus in Patients and Controls حسب Tang, Hsiao-Yuan, Basehore, Monica J., Blakey, Gregory L., Darilek, Sandra, Oghalai, John S., Roa, Benjamin B., Fang, Ping, Alford, Raye Lynn

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Analytical validation of a 12-gene molecular test for the prediction of distant recurrence in breast cancer حسب Warf, M Bryan, Rajamani, Saradha, Krappmann, Kristin, Doedt, Jennifer, Cassiano, Jared, Brown, Krystal, Reid, Julia E, Kronenwett, Ralf, Roa, Benjamin B

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DNA Sequence Analysis of GJB2, Encoding Connexin 26: Observations From a Population of Hearing Impaired Cases and Variable Carrier Rates, Complex Genotypes, and Ethnic Stratificati... حسب Tang, Hsiao-Yuan, Fang, Ping, Ward, Patricia A., Schmitt, Eric, Darilek, Sandra, Manolidis, Spiros, Oghalai, John S., Roa, Benjamin B., Alford, Raye Lynn

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Clinical significance of large rearrangements in BRCA1 and BRCA2 حسب Judkins, Thaddeus, Rosenthal, Eric, Arnell, Christopher, Burbidge, Lynn Anne, Geary, Wade, Barrus, Toby, Schoenberger, Jeremy, Trost, Jeffrey, Wenstrup, Richard J, Roa, Benjamin B

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DNA sequence analysis and genotype–phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy حسب Tang, Hsiao-Yuan, Fang, Ping, Lin, Jerry W, Darilek, Sandra, Osborne, Brooke T, Haymond, Jo Ann, Manolidis, Spiros, Roa, Benjamin B, Oghalai, John S, Alford, Raye L

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Detection of large rearrangements in a hereditary pan-cancer panel using next-generation sequencing حسب Mancini-DiNardo, Debora, Judkins, Thaddeus, Kidd, John, Bernhisel, Ryan, Daniels, Courtney, Brown, Krystal, Meek, Kirsten, Craft, Jonathan, Holladay, Jayson, Morris, Brian, Roa, Benjamin B.

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Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients with Suspected Lynch Syndrome حسب Yurgelun, Matthew B., Allen, Brian, Kaldate, Rajesh R., Bowles, Karla R., Judkins, Thaddeus, Kaushik, Praveen, Roa, Benjamin B., Wenstrup, Richard J., Hartman, Anne-Renee, Syngal, Sapna

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Association of a Polygenic Risk Score With Breast Cancer Among Women Carriers of High- and Moderate-Risk Breast Cancer Genes حسب Gallagher, Shannon, Hughes, Elisha, Wagner, Susanne, Tshiaba, Placede, Rosenthal, Eric, Roa, Benjamin B., Kurian, Allison W., Domchek, Susan M., Garber, Judy, Lancaster, Johnathan, Weitzel, Jeffrey N., Gutin, Alexander, Lanchbury, Jerry S., Robson, Mark

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Somatic and Germline Instability of the ATTCT Repeat in Spinocerebellar Ataxia Type 10 حسب Matsuura, Tohru, Fang, Ping, Lin, Xi, Khajavi, Mehrdad, Tsuji, Kuniko, Rasmussen, Astrid, Grewal, Raji P., Achari, Madhureeta, Alonso, Maria E., Pulst, Stefan M., Zoghbi, Huda Y., Nelson, David L., Roa, Benjamin B., Ashizawa, Tetsuo

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Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS حسب Mendoza-Londono, Roberto , Lammer, Edward , Watson, Rosemarie , Harper, John , Hatamochi, Atsushi , Hatamochi-Hayashi, Saori , Napierala, Dobrawa , Hermanns, Pia , Collins, Sinead , Roa, Benjamin B. , Hedge, Madhuri R. , Wakui, Keiko , Nguyen, Diep , Stockton, David W. , Lee, Brendan 

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Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay حسب Biswas, Kajal, Das, Ranabir, Eggington, Julie M., Qiao, Huanyu, North, Susan L., Stauffer, Stacey, Burkett, Sandra S., Martin, Betty K., Southon, Eileen, Sizemore, Scott C., Pruss, Dmitry, Bowles, Karla R., Roa, Benjamin B., Hunter, Neil, Tessarollo, Lino, Wenstrup, Richard J., Byrd, R. Andrew, Sharan, Shyam K.

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An independent validation of a gene expression signature to differentiate malignant melanoma from benign melanocytic nevi حسب Clarke, Loren E., Flake, Darl D., Busam, Klaus, Cockerell, Clay, Helm, Klaus, McNiff, Jennifer, Reed, Jon, Tschen, Jaime, Kim, Jinah, Barnhill, Raymond, Elenitsas, Rosalie, Prieto, Victor G., Nelson, Jonathan, Kimbrell, Hillary, Kolquist, Kathryn A., Brown, Krystal L., Warf, M. Bryan, Roa, Benjamin B., Wenstrup, Richard J.

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Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study حسب Amos Wilson, Jean, Pratt, Victoria M., Phansalkar, Amit, Muralidharan, Kasinathan, Highsmith, W. Edward, Beck, Jeanne C., Bridgeman, Scott, Courtney, Ebony M., Epp, Lidia, Ferreira-Gonzalez, Andrea, Hjelm, Nick L., Holtegaard, Leonard M., Jama, Mohamed A., Jakupciak, John P., Johnson, Monique A., Labrousse, Paul, Lyon, Elaine, Prior, Thomas W., Richards, C. Sue, Richie, Kristy L., Roa, Benjamin B., Rohlfs, Elizabeth M., Sellers, Tina, Sherman, Stephanie L., Siegrist, Karen A., Silverman, Lawrence M., Wiszniewska, Joanna, Kalman, Lisa V.

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