Kết quả tìm kiếm - Theisen, Aaron
- Đang hiển thị 1 - 10 kết quả của 10
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Disorders caused by chromosome abnormalities Bằng Theisen, Aaron, Shaffer, Lisa G
Được phát hành 2010Text -
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Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases Bằng Vail, Paris J., Morris, Brian, van Kan, Aric, Burdett, Brianna C., Moyes, Kelsey, Theisen, Aaron, Kerr, Iain D., Wenstrup, Richard J., Eggington, Julie M.
Được phát hành 2015Text -
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Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate Bằng Sahoo, Trilochan, Theisen, Aaron, Sanchez-Lara, Pedro A., Marble, Michael, Schweitzer, Daniela N., Torchia, Beth S., Lamb, Allen N., Bejjani, Bassem A., Shaffer, Lisa G., Lacassie, Yves
Được phát hành 2011Text -
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Design and validation of an oligonucleotide microarray for the detection of genomic rearrangements associated with common hereditary cancer syndromes Bằng Mancini-DiNardo, Debora, Judkins, Thaddeus, Woolstenhulme, Nick, Burton, Collin, Schoenberger, Jeremy, Ryder, Matthew, Murray, Adam, Gutin, Natalia, Theisen, Aaron, Holladay, Jayson, Craft, Jonathan, Arnell, Christopher, Moyes, Kelsey, Roa, Benjamin
Được phát hành 2014Text -
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A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33 Bằng Traylor, Ryan N., Bruno, Damien L., Burgess, Trent, Wildin, Robert, Spencer, Anne, Ganesamoorthy, Devika, Amor, David J., Hunter, Matthew, Caplan, Michael, Rosenfeld, Jill A., Theisen, Aaron, Torchia, Beth S., Shaffer, Lisa G., Ballif, Blake C., Slater, Howard R.
Được phát hành 2010Text -
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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication Bằng Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G
Được phát hành 2008Text -
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Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes Bằng Kerr, Iain D., Cox, Hannah C., Moyes, Kelsey, Evans, Brent, Burdett, Brianna C., van Kan, Aric, McElroy, Heather, Vail, Paris J., Brown, Krystal L., Sumampong, Dechie B., Monteferrante, Nicholas J., Hardman, Kennedy L., Theisen, Aaron, Mundt, Erin, Wenstrup, Richard J., Eggington, Julie M.
Được phát hành 2017Text -
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Identification of familial and de novo microduplications of 22q11.21–q11.23 distal to the 22q11.21 microdeletion syndrome region Bằng Coppinger, Justine, McDonald-McGinn, Donna, Zackai, Elaine, Shane, Kate, Atkin, Joan F., Asamoah, Alexander, Leland, Robert, Weaver, David D., Lansky-Shafer, Susan, Schmidt, Karen, Feldman, Heidi, Cohen, William, Phalin, Judy, Powell, Berkley, Ballif, Blake C., Theisen, Aaron, Geiger, Elizabeth, Haldeman-Englert, Chad, Shaikh, Tamim H., Saitta, Sulagna, Bejjani, Bassem A., Shaffer, Lisa G.
Được phát hành 2009Text -
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Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities Bằng Ballif, Blake C., Theisen, Aaron, Rosenfeld, Jill A., Traylor, Ryan N., Gastier-Foster, Julie, Thrush, Devon Lamb, Astbury, Caroline, Bartholomew, Dennis, McBride, Kim L., Pyatt, Robert E., Shane, Kate, Smith, Wendy E., Banks, Valerie, Gallentine, William B., Brock, Pamela, Rudd, M. Katharine, Adam, Margaret P., Keene, Julia A., Phillips, John A., Pfotenhauer, Jean P., Gowans, Gordon C., Stankiewicz, Pawel, Bejjani, Bassem A., Shaffer, Lisa G.
Được phát hành 2010Text