Zobrazeno 1 - 10
of 110
pro vyhledávání: '"Torchia, Beth A."'
Autor:
Lamb, Allen N., Rosenfeld, Jill A., Coppinger, Justine, Dodge, Erin T., Dabell, Mindy Preston, Torchia, Beth S., Ravnan, J. Britt, Shaffer, Lisa G., Ballif, Blake C.
Publikováno v:
In Genetics in Medicine November 2012 14(11):914-921
Autor:
Moles, Kimberly J., Gowans, Gordon C., Gedela, Satyanarayana, Beversdorf, David, Yu, Arthur, Seaver, Laurie H., Schultz, Roger A., Rosenfeld, Jill A., Torchia, Beth S., Shaffer, Lisa G.
Publikováno v:
In Genetics in Medicine May 2012 14(5):508-514
Autor:
Sahoo, Trilochan 1, Theisen, Aaron 1, Rosenfeld, Jill A. 1, Lamb, Allen N. 1, Ravnan, J. Britt 1, Schultz, Roger A. 1, Torchia, Beth S. 1, Neill, Nicholas 1, Casci, Ian 1, Bejjani, Bassem A. 1, Shaffer, Lisa G. 1, *
Publikováno v:
In Genetics in Medicine October 2011 13(10):868-880
Autor:
Rosenfeld, Jill A., Lacassie, Yves, El-Khechen, Dima, Escobar, Luis F., Reggin, James, Heuer, Carolyn, Chen, Emily, Jenkins, Lauren S., Collins, A. Thomas, Zinner, Samuel, Babcock, Melanie, Morrow, Bernice, Schultz, Roger A., Torchia, Beth S., Ballif, Blake C., Tsuchiya, Karen D., Shaffer, Lisa G.
Publikováno v:
In European Journal of Medical Genetics 2011 54(1):42-49
Autor:
Rosenfeld, Jill A., Ballif, Blake C., Torchia, Beth S., Sahoo, Trilochan, Ravnan, J. Britt, Schultz, Roger, Lamb, Allen, Bejjani, Bassem A., Shaffer, Lisa G. *
Publikováno v:
In Genetics in Medicine November 2010 12(11):694-702
Autor:
Tsuchiya, Karen D. *, Shaffer, Lisa G., Aradhya, Swaroop, Gastier-Foster, Julie M., Patel, Ankita, Rudd, M. Katharine, Biggerstaff, Julie Sanford, Sanger, Warren G., Schwartz, Stuart, Tepperberg, James H., Thorland, Erik C., Torchia, Beth A., Brothman, Arthur R.
Publikováno v:
In Genetics in Medicine December 2009 11(12):866-873
Autor:
Rosenfeld, Jill A., Leppig, Kathleen, Ballif, Blake C., Thiese, Heidi, Erdie-Lalena, Christine, Bawle, Erwati, Sastry, Sujatha, Spence, J. Edward, Bandholz, Anne, Surti, Urvashi, Zonana, Jonathan, Keller, Kory, Meschino, Wendy, Bejjani, Bassem A., Torchia, Beth S., Shaffer, Lisa G. *
Publikováno v:
In Genetics in Medicine November 2009 11(11):797-805
Publikováno v:
Molecular Cytogenetics, Vol 3, Iss 1, p 11 (2010)
Abstract Background Microarray-based comparative genomic hybridization (aCGH) is a powerful diagnostic tool for the detection of DNA copy number gains and losses associated with chromosome abnormalities, many of which are below the resolution of conv
Externí odkaz:
https://doaj.org/article/40228e006c884b1f81aa20258cd2aa61
Autor:
Rosenfeld Jill A, Hudson Beth, Fan Zheng, Traylor Ryan N, Shaffer Lisa G, Torchia Beth S, Ballif Blake C
Publikováno v:
Molecular Cytogenetics, Vol 2, Iss 1, p 17 (2009)
Abstract Background Of the fewer than 100 cases reported within the literature of constitutional deletions involving the long arm of chromosome 6, only five have been characterized using high-resolution microarray analysis. Reported 6q deletion patie
Externí odkaz:
https://doaj.org/article/85484a9f11fe41c89cf531b6fff43e5c
Autor:
Bejjani Bassem A, Shaffer Lisa G, Torchia Beth A, Jackson Kelly, Haj Roland, Gowans Gordon C, Ruff Michael W
Publikováno v:
Molecular Cytogenetics, Vol 2, Iss 1, p 2 (2009)
Abstract Background Complex chromosome rearrangements (CCRs), which involve more than two breakpoints on two or more chromosomes, are uncommon occurrences. Although most CCRs appear balanced at the level of the light microscope, many demonstrate cryp
Externí odkaz:
https://doaj.org/article/44a8f7a910254bdea9f35cc6d5aabf21