Artículos de revistas sobre el tema "Hearing Loss,illumina,Agilent"
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Liu, Xiao-Wen, Su-Yang Wang, Zhan-Kui Xing, Yi-Ming Zhu, Wen-Juan Ding, Lei Duan, Xiao Cui, Bai-Cheng Xu, Shu-Juan Li y Yu-Fen Guo. "Targeted next-generation sequencing identified a novel variant of SOX10 in a Chinese family with Waardenburg syndrome type 2". Journal of International Medical Research 48, n.º 11 (noviembre de 2020): 030006052096754. http://dx.doi.org/10.1177/0300060520967540.
Texto completoGunnarsson, Rebeqa, Johan Staaf, Mattias Jansson, Anne Marie Ottesen, Hanna Göransson, Ulrika Liljedahl, Ulrik Ralfkiaer et al. "Screening for Copy Number Alterations and Loss of Heterozygosity in Chronic Lymphocytic Leukemia - A Comparative Study of Four Differently Designed, High Resolution Microarray Platforms." Blood 110, n.º 11 (16 de noviembre de 2007): 2084. http://dx.doi.org/10.1182/blood.v110.11.2084.2084.
Texto completoHosono, Katsuhiro, Yuko Harada, Kentaro Kurata, Akiko Hikoya, Miho Sato, Shinsei Minoshima y Yoshihiro Hotta. "NovelGUCY2DGene Mutations in Japanese Male Twins with Leber Congenital Amaurosis". Journal of Ophthalmology 2015 (2015): 1–10. http://dx.doi.org/10.1155/2015/693468.
Texto completoHagleitner, Melanie M., Marieke J. H. Coenen, Hans Gelderblom, Peter Hoogerbrugge, Henk-jan Guchelaar y Dunja Maroeslea W. M. Te Loo. "Association of the genetic variants in the nucleotide excision repair genes XPA and XPC with cisplatin-induced hearing loss in patients with osteosarcoma." Journal of Clinical Oncology 30, n.º 15_suppl (20 de mayo de 2012): 10077. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.10077.
Texto completoRiza, Anca-Lelia, Camelia Alkhzouz, Marius Farcaș, Andrei Pîrvu, Diana Miclea, Gheorghe Mihuț, Răzvan-Mihail Pleșea et al. "Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene". Genes 14, n.º 1 (26 de diciembre de 2022): 69. http://dx.doi.org/10.3390/genes14010069.
Texto completoArmstrong, Andrew J., Jing Li, Joshua Beaver, Rhonda Lynn Bitting y Simon Gregory. "Genomic analysis of circulating tumor cells (CTCs) from men with metastatic castration resistant prostate cancer (mCRPC) in the context of enzalutamide therapy." Journal of Clinical Oncology 32, n.º 4_suppl (1 de febrero de 2014): 65. http://dx.doi.org/10.1200/jco.2014.32.4_suppl.65.
Texto completoO’Halloran, Katrina, Moiz Bootwalla, Daria Merkurjev, Kristiyana Kaneva, Alex Ryutov, Jennifer Cotter, Jianling Ji, Dejerianne Ostrow, Jaclyn A. Biegel y Xiaowu Gai. "RARE-57. PEDIATRIC CHORDOMA: WHOLE EXOME SEQUENCING OF 11 PEDIATRIC CHORDOMA SAMPLES". Neuro-Oncology 22, Supplement_3 (1 de diciembre de 2020): iii454. http://dx.doi.org/10.1093/neuonc/noaa222.767.
Texto completoLi, Qian, Yuxiao Zou y Sentai Liao. "Mulberry Leaf Polyphenols and Fiber Induce Synergistic Antiobesity and Display a Modulation Effect on Gut Microbiota and Metabolites". Current Developments in Nutrition 4, Supplement_2 (29 de mayo de 2020): 1654. http://dx.doi.org/10.1093/cdn/nzaa063_052.
Texto completoToomey, Sinead, Aoife Carr, Jillian Rebecca Gunther, Joanna Fay, Anthony O'Grady, David Weksberg, Scott W. Piraino et al. "Clonal evolution in locally advanced rectal cancers in response to neoadjuvant chemoradiotherapy." Journal of Clinical Oncology 35, n.º 15_suppl (20 de mayo de 2017): 3616. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.3616.
Texto completoTeule, Alex, Francisco Quiles, Rafael Valdes-Mas, Miguel Angel Pujana, Monica Salinas, Lidia Feliubadalo, Gabriel Capella et al. "Searching for new genes responsible for unexplained hereditary breast and ovarian cancer patients." Journal of Clinical Oncology 31, n.º 15_suppl (20 de mayo de 2013): e12516-e12516. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e12516.
Texto completoMikulasova, Aneta, Brian A. Walker, Christopher P. Wardell, Eileen M. Boyle, Alexander Murison, Zuzana Kufova, Ludek Pour, Petr Kuglik, Roman Hajek y Gareth J. Morgan. "Somatic Mutation Spectrum in Monoclonal Gammopathy of Undetermined Significance Compared to Multiple Myeloma". Blood 124, n.º 21 (6 de diciembre de 2014): 3346. http://dx.doi.org/10.1182/blood.v124.21.3346.3346.
Texto completoMahjoubi, Frouzandeh, Samira Shabani, Sogand Khakbazpour y Aylar Khaligh Akhlaghi. "Novel EPG5 Mutation Associated with Vici Syndrome Gene". Case Reports in Genetics 2022 (5 de julio de 2022): 1–3. http://dx.doi.org/10.1155/2022/5452944.
Texto completoSacco, Antonio, Yawara Kawano, Michele Moschetta, Jihye Park, Oksana Zavidij, Michaela Reagan, Yuji Mishima et al. "Dual Conditional Loss of BLIMP-1 and p53 in B-Cells Drives B-Cell Lymphomagenesis". Blood 128, n.º 22 (2 de diciembre de 2016): 4169. http://dx.doi.org/10.1182/blood.v128.22.4169.4169.
Texto completoSmits, Willem K., Carlo Vermeulen, Rico Hagelaar, Shunsuke Kimura, Eric Vroegindeweij, Jessica G. C. A. M. Buijs-Gladdines, Ellen Van De Geer et al. "Elevated Enhancer-Oncogene Contacts and Higher Oncogene Expression Levels By Recurrent CTCF inactivating Mutations in T Cell Acute Lymphoblastic Leukemia". Blood 138, Supplement 1 (5 de noviembre de 2021): 501. http://dx.doi.org/10.1182/blood-2021-152221.
Texto completoZemanova, Zuzana, Kyra Michalova, Karla Svobodova, Jana Brezinova, Halka Lhotska, Libuse Lizcova, Iveta Sarova et al. "Chromothripsis in High-Risk Myelodysplastic Syndromes: Incidence, Genetic Features, Clinical Implications, and Impact on Survival of Patients Treated with Azacytidine (Data from Czech MDS Group)". Blood 132, Supplement 1 (29 de noviembre de 2018): 1815. http://dx.doi.org/10.1182/blood-2018-99-114151.
Texto completoHamada, Motoharu, Hideki Muramatsu, Yusuke Okuno, Ayako Yamamori, Taro Yoshida, Masayuki Imaya, Manabu Wakamatsu et al. "Diagnostic Whole Exome Sequencing for 166 Patients with Inherited Bone Marrow Failure Syndrome". Blood 136, Supplement 1 (5 de noviembre de 2020): 9. http://dx.doi.org/10.1182/blood-2020-143241.
Texto completoGarg, Tarun K., Ricky D. Edmondson, Shweta S. Chavan, Katie Stone, Justin M. Stivers, Jessica I. Warden, Veronica Macleod et al. "Differential ICAM3 Gene Expression Correlates with Susceptibility to Natural Killer Cell-Mediated Lysis in Multiple Myeloma". Blood 126, n.º 23 (3 de diciembre de 2015): 2990. http://dx.doi.org/10.1182/blood.v126.23.2990.2990.
Texto completoГусина, А. А., В. Ф. Иванова, К. А. Криницкая y Н. Б. Гусина. "SLC4A11-Associated Hereditary Corneal Endothelial Dystrophies: Literature Review and Case Report". Офтальмология. Восточная Европа, n.º 4 (9 de febrero de 2021): 555–67. http://dx.doi.org/10.34883/pi.2020.10.4.027.
Texto completoNeumann, Martin, Marco Seehawer, Cornelia Schlee, Sebastian Vosberg, Sandra Heesch, Eva von der Heide, Alexander Graf et al. "FAT1 Expression and Mutation Status In Adult Acute Lymphoblastic Leukemia". Blood 122, n.º 21 (15 de noviembre de 2013): 2564. http://dx.doi.org/10.1182/blood.v122.21.2564.2564.
Texto completoVosberg, Sebastian, Tobias Herold, Klaus H. Metzeler, Stephanie Schneider, Bianka Ksienzyk, Alexander Graf, Stefan Krebs et al. "Copy Number Alteration (CNA) Analysis in Targeted Sequencing Data from Acute Myeloid Leukemia (AML) Patients with Chromosome 9q Deletion". Blood 124, n.º 21 (6 de diciembre de 2014): 1058. http://dx.doi.org/10.1182/blood.v124.21.1058.1058.
Texto completoRose-Zerilli, Matthew JJ, Gibson Jane, Jun Wang, William J. Tapper, Helen Parker, Anton Parker, Zadie Davis et al. "Tracking Subclonal Mutations in IGHV-Mutated CLL with Progressive Disease". Blood 124, n.º 21 (6 de diciembre de 2014): 1962. http://dx.doi.org/10.1182/blood.v124.21.1962.1962.
Texto completoLawrie, Alastair, Timothee Cezard, Dominic J. Culligan y Mark A. Vickers. "Exome Sequencing and Linkage Analysis Implicates Two Candidate Genes On Chromosome 3p in Familial Hodgkin Lymphoma". Blood 120, n.º 21 (16 de noviembre de 2012): 53. http://dx.doi.org/10.1182/blood.v120.21.53.53.
Texto completoNussenzveig, Roberto H., Mohamed E. Salama, Sherrie L. Perkins, Josef Prchal y Archana M. Agarwal. "The Clinical Utility Of Next-Generation Sequencing In The Diagnosis Of Polycythemia". Blood 122, n.º 21 (15 de noviembre de 2013): 2185. http://dx.doi.org/10.1182/blood.v122.21.2185.2185.
Texto completoWeber, Simone, Manja Meggendorfer, Niroshan Nadarajah, Karolína Perglerová, Susanne Schnittger, Claudia Haferlach, Wolfgang Kern y Torsten Haferlach. "Molecular Characterization of Philadelphia Chromosome Positive Acute Myeloid Leukemia - New Provisional Entity?" Blood 126, n.º 23 (3 de diciembre de 2015): 3846. http://dx.doi.org/10.1182/blood.v126.23.3846.3846.
Texto completoFurness, Caroline L., Marcela B. Mansur, Victoria J. Weston, Sarah Jenkinson, Frederik W. van Delft, Lyndal Kearney, Ian Titley et al. "The Sub-Clonal Complexity of STIL-TAL1 T-ALL". Blood 124, n.º 21 (6 de diciembre de 2014): 3788. http://dx.doi.org/10.1182/blood.v124.21.3788.3788.
Texto completoCulen, Martin, Zdenka Kosarova, Ivana Jeziskova, Adam Folta, Nikola Tom, Ondrej Venglár, Dana Dvorakova, Jiri Mayer y Zdenek Racil. "Persistence of Mutations during Remission in 114 AML Patients". Blood 132, Supplement 1 (29 de noviembre de 2018): 2796. http://dx.doi.org/10.1182/blood-2018-99-110586.
Texto completoMansouri, Larry, Lesley-Ann Sutton, Viktor Ljungstrom, Sina Bondza, Linda Arngarden, Sujata Bhoi, Jimmy Larsson et al. "Recurrent Mutations within the Nfkbie gene: A Novel Mechanism for NF-κB Deregulation in Aggressive Chronic Lymphocytic Leukemia". Blood 124, n.º 21 (6 de diciembre de 2014): 297. http://dx.doi.org/10.1182/blood.v124.21.297.297.
Texto completoNishijima, Dai, Mitsuko Akaihata, Yuka Iijima-Yamashita, Tomomi Yamada, Yuichi Shiraishi, Hiroko Tanaka, Toshinori Hori, Satoru Miyano, Keizo Horibe y Masashi Sanada. "Capture Sequencing Is a Useful Method for Comprehensive Clonality Analysis Based on Ig/TCR Gene Rearrangements in Acute Lymphoblastic Leukemia". Blood 132, Supplement 1 (29 de noviembre de 2018): 1543. http://dx.doi.org/10.1182/blood-2018-99-115624.
Texto completoDONG, Gehong, Qiang Gong, Jinhui Wang, Xiwei Wu, Yuping Li, Leticia Quintanilla-Martinez Fend, Jingwen Wang, Hong-gang Liu, Timothy W. McKeithan y Wing Chung Chan. "Driver Mutations Affecting Natural Killer/T Cell Lymphoma". Blood 128, n.º 22 (2 de diciembre de 2016): 4109. http://dx.doi.org/10.1182/blood.v128.22.4109.4109.
Texto completoGerrard, Gareth, Mikel Valgañón, Hui En Foong, Dalia Kasperaviciute, Michael Müller, Laurence Game, Deena Iskander et al. "Target Enrichment and High-Throughput Sequencing of 80 Ribosomal Protein Genes to Identify Mutations Associated with Diamond-Blackfan Anaemia." Blood 120, n.º 21 (16 de noviembre de 2012): 2369. http://dx.doi.org/10.1182/blood.v120.21.2369.2369.
Texto completoHeuck, Christoph, Niels Weinhold, Erich Allen Peterson, Michael Bauer, Caleb K. Stein, Timothy Ashby, Shweta S. Chavan et al. "The Impact of Combination Chemotherapy and Tandem Stem Cell Transplant on Clonal Substructure and Mutational Pattern at Relapse of MM". Blood 126, n.º 23 (3 de diciembre de 2015): 372. http://dx.doi.org/10.1182/blood.v126.23.372.372.
Texto completoMalecka, Agnieszka, Gunhild Trøen, Anne Tierens, Ingunn Østlie, Jedrzej Malecki, Ulla Randen, Sigbjørn Berentsen, Geir E. Tjønnfjord y Jan M. A. Delabie. "High Frequency of Somatic Mutations of KMT2D and CARD11 Genes in Cold Agglutinin Disease". Blood 128, n.º 22 (2 de diciembre de 2016): 2934. http://dx.doi.org/10.1182/blood.v128.22.2934.2934.
Texto completoMcKerrell, Thomas D., Ignacio Varela, Nicolo Bolli, Postingl Hannes, Zemin Ning, German Tischler, Anthony Bench et al. "R.I.S.C.L: A Holistic Molecular Diagnostic Tool for Myeloid Malignancies". Blood 124, n.º 21 (6 de diciembre de 2014): 2342. http://dx.doi.org/10.1182/blood.v124.21.2342.2342.
Texto completoRomasko, Edward J., Sawona Biswas, Batsal Devkota, Jayaraman Vijayakumar, Sowmyra Jairam, Christopher S. Thom, Matthew C. Dulik et al. "Utility of Whole Exome Sequencing in Diagnosis of Pediatric Platelet Disorders: A Subanalysis of the Pediseq Study". Blood 128, n.º 22 (2 de diciembre de 2016): 3726. http://dx.doi.org/10.1182/blood.v128.22.3726.3726.
Texto completoVrzalova, Zuzana, Katerina Stano Kozubik, Lenka Radova, Jakub Trizuljak, Sarka Pospisilova y Michael Doubek. "Characterization of Pathogenic Variants Associated with Hereditary Thrombocytopenias in Families from the Czech Republic". Blood 134, Supplement_1 (13 de noviembre de 2019): 2343. http://dx.doi.org/10.1182/blood-2019-122696.
Texto completoVantyghem, Sophie, Pierre Peterlin, Sylvain Thepot, Audrey Ménard, Viviane Dubruille, Camille Debord, Thierry Guillaume et al. "Multicentric Real Life Evaluation of the Impact of Next-Generation Sequencing on the Clinical Management of Chronic Myeloid Malignancies". Blood 134, Supplement_1 (13 de noviembre de 2019): 5771. http://dx.doi.org/10.1182/blood-2019-122958.
Texto completoFahimi, Hossein, Samira Behroozi, Sadaf Noavar y Farshid Parvini. "A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss". BMC Medical Genomics 14, n.º 1 (2 de febrero de 2021). http://dx.doi.org/10.1186/s12920-021-00884-4.
Texto completoAdeberg, Sebastian, Maximilian Knoll, Christian Koelsche, Denise Bernhardt, Daniel Schrimpf, Felix Sahm, Laila König et al. "DNA-methylome-assisted classification of patients with poor prognostic subventricular zone associated IDH-wildtype glioblastoma". Acta Neuropathologica, 4 de junio de 2022. http://dx.doi.org/10.1007/s00401-022-02443-2.
Texto completoJeppesen, Line Dahl, Lotte Hatt, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Sara Markholt, Dorte L. Lildballe y Ida Vogel. "Screening for Fetal Aneuploidy and Sex Chromosomal Anomalies in a Pregnant Woman With Mosaicism for Turner Syndrome—Applications and Advantages of Cell-Based NIPT". Frontiers in Genetics 12 (14 de septiembre de 2021). http://dx.doi.org/10.3389/fgene.2021.741752.
Texto completoKlee, Philippe, Mirjam Dirlewanger, Valérie McLin, Maria Teresa Carminho y Valerie M. Schwitzgebel. "SUN-602 Weight Loss After Glucagon-Like Peptide-1 Receptor Agonist Treatment in Childhood Obesity with Diabetes and Cirrhosis Associated with a Homozygous MC4R Mutation". Journal of the Endocrine Society 4, Supplement_1 (abril de 2020). http://dx.doi.org/10.1210/jendso/bvaa046.611.
Texto completoCollins, Jason M., Rahul Gondalia, Anne E. Justice, Katelyn Holliday, James Stewart, Eugenia Wong, Yun Li et al. "Abstract P143: Methylome-Wide Association Of DNA Methylation And Aircraft Noise Exposure In The Women’s Health Initiative". Circulation 141, Suppl_1 (3 de marzo de 2020). http://dx.doi.org/10.1161/circ.141.suppl_1.p143.
Texto completoGalan Carrillo, Isabel, Liliana Galbis, Víctor Martínez Jiménez, Pedro Pablo Ortuño, Susana Roca, Juan David Castro, Fernanda Ramos, Lidia Rodríguez y Encarnación Guillén. "MO039: Multidisciplinary approach improves genetic diagnosis of Alport syndrome in the next-generation sequencing ERA". Nephrology Dialysis Transplantation 37, Supplement_3 (mayo de 2022). http://dx.doi.org/10.1093/ndt/gfac062.020.
Texto completoFrança, Monica Malheiros, Xiao Hui Liao, Gustavo Werpel Fernandes, Alina German, Antonio C. Bianco, Samuel Refetoff y Alexandra Dumitrescu. "OR01-01 Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism". Journal of the Endocrine Society 4, Supplement_1 (abril de 2020). http://dx.doi.org/10.1210/jendso/bvaa046.966.
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