תוצאות חיפוש - Aypar, Umut

Neurological Manifestations of X-Linked Ichthyosis: Case Report and Review of the Literature מאת Baek, William S., Aypar, Umut

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Patients with mosaic methylation patterns of the Prader-Willi/Angelman Syndrome critical region exhibit AS-like phenotypes with some PWS features מאת Aypar, Umut, Hoppman, Nicole L., Thorland, Erik C., Dawson, D. Brian

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Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3 מאת Hoppman, Nicole, Aypar, Umut, Brodersen, Pamela, Brown, Neil, Wilson, Justin, Babovic-Vuksanovic, Dusica

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Genetic and Epigenetic Changes in Chromosomally Stable and Unstable Progeny of Irradiated Cells מאת Baulch, Janet E., Aypar, Umut, Waters, Katrina M., Yang, Austin J., Morgan, William F.

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Automated 3D scoring of fluorescence in situ hybridization (FISH) using a confocal whole slide imaging scanner מאת Frankenstein, Ziv, Uraoka, Naohiro, Aypar, Umut, Aryeequaye, Ruth, Rao, Mamta, Hameed, Meera, Zhang, Yanming, Yagi, Yukako

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Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia מאת Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D׳Aco, Kristin

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Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease מאת Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D'Aco, Kristin

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False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13 מאת Cao, Yang, Hoppman, Nicole L., Kerr, Sarah E., Sattler, Christopher A., Borowski, Kristi S., Wick, Myra J., Highsmith, W. Edward, Aypar, Umut

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The t(11;14)(q13;q32)/CCND1–IGH translocation in chronic lymphocytic leukaemia/small lymphocytic lymphoma: an unusual genetic aberration during the natural clinical course מאת Liu, Ying, Roshal, Mikhail, Xiao, Wenbin, Zhang, Yanming, Aypar, Umut, Yu, Wayne, Nafa, Khedoudja, Arcila, Maria, Moung, Christine, Dogan, Ahmet, Park, Jae, Ho, Caleb

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Localized Peritumoral AL Amyloidosis Associated with Mantle Cell Lymphoma with Plasmacytic Differentiation מאת Yabe, Mariko, Ozkaya, Neval, de Jong, Daphne, Aypar, Umut, Ritorto, M. Stella, Barbé, Ellis, Miedema, Iris H. C., Sen, Filiz, Chapman, Jessica R., Landau, Heather J., Dogan, Ahmet

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A Performance Comparison of Commonly Used Assays to Detect RET Fusions מאת Yang, Soo-Ryum, Aypar, Umut, Rosen, Ezra Y., Mata, Douglas A., Benayed, Ryma, Mullaney, Kerry, Jayakumaran, Gowtham, Zhang, Yanming, Frosina, Denise, Drilon, Alexander, Ladanyi, Marc, Jungbluth, Achim, Rekhtman, Natasha, Hechtman, Jaclyn F.

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Clonally-Related CD5+ CLL/SLL and CD10+ high grade B-cell lymphoma suggests common neoplastic progenitor with branched disease evolution, with therapeutic implications מאת Kumar, Priyadarshini, Uppal, Manik, Xiao, Wenbin, Dogan, Ahmet, Roshal, Mikhail, Gao, Qi, Aypar, Umut, Zhang, Yanming, Arcila, Maria E., Moung, Christine, Yao, Jinjuan, Nafa, Khedoudja, Yu, Wayne, Syed, Mustafa H., Park, Jae, Kumar, Anita, Ho, Caleb

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Myeloid/lymphoid neoplasms with eosinophilia/basophilia and ETV6-ABL1 fusion: cell-of-origin and response to tyrosine kinase inhibition מאת Yao, Jinjuan, Xu, Lianrong, Aypar, Umut, Meyerson, Howard J., Londono, Dory, Gao, Qi, Baik, Jeeyeon, Dietz, James, Benayed, Ryma, Sigler, Allison, Yabe, Mariko, Dogan, Ahmet, Arcila, Maria E., Roshal, Mikhail, Zhang, Yanming, Mauro, Michael J., Xiao, Wenbin

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Copy Number Variant Analysis using Genome-Wide Mate-Pair Sequencing מאת Smadbeck, James B, Johnson, Sarah H., Smoley, Stephanie A., Gaitatzes, Athanasios, Drucker, Travis M., Zenka, Roman M., Kosari, Farhad, Murphy, Stephen J., Hoppman, Nicole, Aypar, Umut, Sukov, William R., Jenkins, Robert B., Kearney, Hutton M., Feldman, Andrew L., Vasmatzis, George

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Impact of RNA degradation on fusion detection by RNA-seq מאת Davila, Jaime I., Fadra, Numrah M., Wang, Xiaoke, McDonald, Amber M., Nair, Asha A., Crusan, Barbara, R., Wu, Xianglin, Blommel, Joseph H., Jen, Jin, Rumilla, Kandelaria M., Jenkins, Robert B., Aypar, Umut, Klee, Eric W., Kipp, Benjamin R., Halling, Kevin C.

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P2RY8-CRLF2 Fusion–Positive Acute Myeloid Leukemia With Myelodysplasia-Related Changes: Response to Novel Therapy מאת Aypar, Umut, Taylor, Justin, Garcia, Jacqueline S., Momeni-Boroujeni, Amir, Gao, Qi, Baik, Jeeyeon, Londono, Dory, Benayed, Ryma, Sigler, Allison, Haddadin, Michael, Penson, Alexander V., Arcila, Maria E., Mullaney, Kerry, Sukhadia, Purvil, Quesada, Andres E., Roshal, Mikhail, Cullen, Nicole, Lako, Ana, Rodig, Scott J., Goldberg, Aaron D., Zhang, Yanming, Xiao, Wenbin, Ho, Caleb

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Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia מאת Aypar, Umut, Smoley, Stephanie A., Pitel, Beth A., Pearce, Kathryn E., Zenka, Roman M., Vasmatzis, George, Johnson, Sarah H., Smadbeck, James B., Peterson, Jess F., Geiersbach, Katherine B., Van Dyke, Daniel L., Thorland, Erik C., Jenkins, Robert B., Ketterling, Rhett P., Greipp, Patricia T., Kearney, Hutton M., Hoppman, Nicole L., Baughn, Linda B.

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Germ cell tumors and associated hematologic malignancies evolve from a common shared precursor מאת Taylor, Justin, Donoghue, Mark T.A., Ho, Caleb, Petrova-Drus, Kseniya, Al-Ahmadie, Hikmat A., Funt, Samuel A., Zhang, Yanming, Aypar, Umut, Rao, Pavitra, Chavan, Shweta S., Haddadin, Michael, Tamari, Roni, Giralt, Sergio, Tallman, Martin S., Rampal, Raajit K., Baez, Priscilla, Kappagantula, Rajya, Kosuri, Satyajit, Dogan, Ahmet, Tickoo, Satish K., Reuter, Victor E., Bosl, George J., Iacobuzio-Donahue, Christine A., Solit, David B., Taylor, Barry S., Feldman, Darren R., Abdel-Wahab, Omar

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