检索结果 - Ballif, Blake C.

The Promise and Pitfalls of Telomere Region–Specific Probes 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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