نتائج البحث - Ballif, Blake C.

The Promise and Pitfalls of Telomere Region–Specific Probes حسب Ballif, Blake C., Kashork, Catherine D., Shaffer, Lisa G.

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Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines حسب Shaffer, Lisa G., Geretschlaeger, Anja, Ramirez, Christina J., Ballif, Blake C., Carl, Casey

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Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH حسب Neill, Nicholas J, Torchia, Beth S, Bejjani, Bassem A, Shaffer, Lisa G, Ballif, Blake C

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Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing حسب Ramirez, Christina J., Krug, Melissa, Zahand, Adam, Sundin, Kyle, Shaffer, Lisa G., Ballif, Blake C.

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Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report حسب Traylor, Ryan N, Fan, Zheng, Hudson, Beth, Rosenfeld, Jill A, Shaffer, Lisa G, Torchia, Beth S, Ballif, Blake C

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Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications حسب Rosenfeld, Jill A., Coppinger, Justine, Bejjani, Bassem A., Girirajan, Santhosh, Eichler, Evan E., Shaffer, Lisa G., Ballif, Blake C.

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Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome حسب Rosenfeld, Jill A., Ballif, Blake C., Lucas, Ann, Spence, Edward J., Powell, Cynthia, Aylsworth, Arthur S., Torchia, Beth A., Shaffer, Lisa G.

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Standards and guidelines for canine clinical genetic testing laboratories حسب Shaffer, Lisa G., Sundin, Kyle, Geretschlaeger, Anja, Segert, Julia, Swinburne, June E., Royal, Ramon, Loechel, Robert, Ramirez, Christina J., Ballif, Blake C.

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Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism حسب Hermetz, Karen E., Newman, Scott, Conneely, Karen N., Martin, Christa L., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Rudd, M. Katharine

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Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH حسب Neill, Nicholas J., Ballif, Blake C., Lamb, Allen N., Parikh, Sumit, Ravnan, J. Britt, Schultz, Roger A., Torchia, Beth S., Rosenfeld, Jill A., Shaffer, Lisa G.

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes حسب Rosenfeld, Jill A, Traylor, Ryan N, Schaefer, G Bradley, McPherson, Elizabeth W, Ballif, Blake C, Klopocki, Eva, Mundlos, Stefan, Shaffer, Lisa G, Aylsworth, Arthur S

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Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome حسب Heilstedt, Heidi A., Ballif, Blake C., Howard, Leslie A., Lewis, Richard A., Stal, Samuel, Kashork, Catherine D., Bacino, Carlos A., Shapira, Stuart K., Shaffer, Lisa G.

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Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis حسب Schultz, Roger A, Delioukina, Maria, Gaal, Karl, Bedell, Victoria, Smith, David D, Forman, Stephen J, McDaniel, Lisa D, Ballif, Blake C, Shaffer, Lisa G, Slovak, Marilyn L

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Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies حسب Shaffer, Lisa G, Dabell, Mindy P, Fisher, Allan J, Coppinger, Justine, Bandholz, Anne M, Ellison, Jay W, Ravnan, J Britt, Torchia, Beth S, Ballif, Blake C, Rosenfeld, Jill A

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Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound حسب Shaffer, Lisa G, Rosenfeld, Jill A, Dabell, Mindy P, Coppinger, Justine, Bandholz, Anne M, Ellison, Jay W, Ravnan, J Britt, Torchia, Beth S, Ballif, Blake C, Fisher, Allan J

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Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromes حسب Slovak, Marilyn L, Smith, David D, Bedell, Victoria, Hsu, Ya-Hsuan, O'Donnell, Margaret, Forman, Stephen J, Gaal, Karl, McDaniel, Lisa, Schultz, Roger, Ballif, Blake C, Shaffer, Lisa G

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome حسب Duker, Angela L, Ballif, Blake C, Bawle, Erawati V, Person, Richard E, Mahadevan, Sangeetha, Alliman, Sarah, Thompson, Regina, Traylor, Ryan, Bejjani, Bassem A, Shaffer, Lisa G, Rosenfeld, Jill A, Lamb, Allen N, Sahoo, Trilochan

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Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements حسب Luo, Yue, Hermetz, Karen E., Jackson, Jodi M., Mulle, Jennifer G., Dodd, Anne, Tsuchiya, Karen D., Ballif, Blake C., Shaffer, Lisa G., Cody, Jannine D., Ledbetter, David H., Martin, Christa L., Rudd, M. Katharine

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A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33 حسب 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.

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Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication حسب 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

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