Journal articles on the topic '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, and 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, no. 11 (November 2020): 030006052096754. http://dx.doi.org/10.1177/0300060520967540.
Full textGunnarsson, 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, no. 11 (November 16, 2007): 2084. http://dx.doi.org/10.1182/blood.v110.11.2084.2084.
Full textHosono, Katsuhiro, Yuko Harada, Kentaro Kurata, Akiko Hikoya, Miho Sato, Shinsei Minoshima, and 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.
Full textHagleitner, Melanie M., Marieke J. H. Coenen, Hans Gelderblom, Peter Hoogerbrugge, Henk-jan Guchelaar, and 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, no. 15_suppl (May 20, 2012): 10077. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.10077.
Full textRiza, 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, no. 1 (December 26, 2022): 69. http://dx.doi.org/10.3390/genes14010069.
Full textArmstrong, Andrew J., Jing Li, Joshua Beaver, Rhonda Lynn Bitting, and 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, no. 4_suppl (February 1, 2014): 65. http://dx.doi.org/10.1200/jco.2014.32.4_suppl.65.
Full textO’Halloran, Katrina, Moiz Bootwalla, Daria Merkurjev, Kristiyana Kaneva, Alex Ryutov, Jennifer Cotter, Jianling Ji, Dejerianne Ostrow, Jaclyn A. Biegel, and Xiaowu Gai. "RARE-57. PEDIATRIC CHORDOMA: WHOLE EXOME SEQUENCING OF 11 PEDIATRIC CHORDOMA SAMPLES." Neuro-Oncology 22, Supplement_3 (December 1, 2020): iii454. http://dx.doi.org/10.1093/neuonc/noaa222.767.
Full textLi, Qian, Yuxiao Zou, and 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 (May 29, 2020): 1654. http://dx.doi.org/10.1093/cdn/nzaa063_052.
Full textToomey, 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, no. 15_suppl (May 20, 2017): 3616. http://dx.doi.org/10.1200/jco.2017.35.15_suppl.3616.
Full textTeule, 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, no. 15_suppl (May 20, 2013): e12516-e12516. http://dx.doi.org/10.1200/jco.2013.31.15_suppl.e12516.
Full textMikulasova, Aneta, Brian A. Walker, Christopher P. Wardell, Eileen M. Boyle, Alexander Murison, Zuzana Kufova, Ludek Pour, Petr Kuglik, Roman Hajek, and Gareth J. Morgan. "Somatic Mutation Spectrum in Monoclonal Gammopathy of Undetermined Significance Compared to Multiple Myeloma." Blood 124, no. 21 (December 6, 2014): 3346. http://dx.doi.org/10.1182/blood.v124.21.3346.3346.
Full textMahjoubi, Frouzandeh, Samira Shabani, Sogand Khakbazpour, and Aylar Khaligh Akhlaghi. "Novel EPG5 Mutation Associated with Vici Syndrome Gene." Case Reports in Genetics 2022 (July 5, 2022): 1–3. http://dx.doi.org/10.1155/2022/5452944.
Full textSacco, 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, no. 22 (December 2, 2016): 4169. http://dx.doi.org/10.1182/blood.v128.22.4169.4169.
Full textSmits, 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 (November 5, 2021): 501. http://dx.doi.org/10.1182/blood-2021-152221.
Full textZemanova, 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 (November 29, 2018): 1815. http://dx.doi.org/10.1182/blood-2018-99-114151.
Full textHamada, 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 (November 5, 2020): 9. http://dx.doi.org/10.1182/blood-2020-143241.
Full textGarg, 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, no. 23 (December 3, 2015): 2990. http://dx.doi.org/10.1182/blood.v126.23.2990.2990.
Full textГусина, А. А., В. Ф. Иванова, К. А. Криницкая, and Н. Б. Гусина. "SLC4A11-Associated Hereditary Corneal Endothelial Dystrophies: Literature Review and Case Report." Офтальмология. Восточная Европа, no. 4 (February 9, 2021): 555–67. http://dx.doi.org/10.34883/pi.2020.10.4.027.
Full textNeumann, 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, no. 21 (November 15, 2013): 2564. http://dx.doi.org/10.1182/blood.v122.21.2564.2564.
Full textVosberg, 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, no. 21 (December 6, 2014): 1058. http://dx.doi.org/10.1182/blood.v124.21.1058.1058.
Full textRose-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, no. 21 (December 6, 2014): 1962. http://dx.doi.org/10.1182/blood.v124.21.1962.1962.
Full textLawrie, Alastair, Timothee Cezard, Dominic J. Culligan, and Mark A. Vickers. "Exome Sequencing and Linkage Analysis Implicates Two Candidate Genes On Chromosome 3p in Familial Hodgkin Lymphoma." Blood 120, no. 21 (November 16, 2012): 53. http://dx.doi.org/10.1182/blood.v120.21.53.53.
Full textNussenzveig, Roberto H., Mohamed E. Salama, Sherrie L. Perkins, Josef Prchal, and Archana M. Agarwal. "The Clinical Utility Of Next-Generation Sequencing In The Diagnosis Of Polycythemia." Blood 122, no. 21 (November 15, 2013): 2185. http://dx.doi.org/10.1182/blood.v122.21.2185.2185.
Full textWeber, Simone, Manja Meggendorfer, Niroshan Nadarajah, Karolína Perglerová, Susanne Schnittger, Claudia Haferlach, Wolfgang Kern, and Torsten Haferlach. "Molecular Characterization of Philadelphia Chromosome Positive Acute Myeloid Leukemia - New Provisional Entity?" Blood 126, no. 23 (December 3, 2015): 3846. http://dx.doi.org/10.1182/blood.v126.23.3846.3846.
Full textFurness, 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, no. 21 (December 6, 2014): 3788. http://dx.doi.org/10.1182/blood.v124.21.3788.3788.
Full textCulen, Martin, Zdenka Kosarova, Ivana Jeziskova, Adam Folta, Nikola Tom, Ondrej Venglár, Dana Dvorakova, Jiri Mayer, and Zdenek Racil. "Persistence of Mutations during Remission in 114 AML Patients." Blood 132, Supplement 1 (November 29, 2018): 2796. http://dx.doi.org/10.1182/blood-2018-99-110586.
Full textMansouri, 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, no. 21 (December 6, 2014): 297. http://dx.doi.org/10.1182/blood.v124.21.297.297.
Full textNishijima, Dai, Mitsuko Akaihata, Yuka Iijima-Yamashita, Tomomi Yamada, Yuichi Shiraishi, Hiroko Tanaka, Toshinori Hori, Satoru Miyano, Keizo Horibe, and 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 (November 29, 2018): 1543. http://dx.doi.org/10.1182/blood-2018-99-115624.
Full textDONG, Gehong, Qiang Gong, Jinhui Wang, Xiwei Wu, Yuping Li, Leticia Quintanilla-Martinez Fend, Jingwen Wang, Hong-gang Liu, Timothy W. McKeithan, and Wing Chung Chan. "Driver Mutations Affecting Natural Killer/T Cell Lymphoma." Blood 128, no. 22 (December 2, 2016): 4109. http://dx.doi.org/10.1182/blood.v128.22.4109.4109.
Full textGerrard, 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, no. 21 (November 16, 2012): 2369. http://dx.doi.org/10.1182/blood.v120.21.2369.2369.
Full textHeuck, 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, no. 23 (December 3, 2015): 372. http://dx.doi.org/10.1182/blood.v126.23.372.372.
Full textMalecka, Agnieszka, Gunhild Trøen, Anne Tierens, Ingunn Østlie, Jedrzej Malecki, Ulla Randen, Sigbjørn Berentsen, Geir E. Tjønnfjord, and Jan M. A. Delabie. "High Frequency of Somatic Mutations of KMT2D and CARD11 Genes in Cold Agglutinin Disease." Blood 128, no. 22 (December 2, 2016): 2934. http://dx.doi.org/10.1182/blood.v128.22.2934.2934.
Full textMcKerrell, 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, no. 21 (December 6, 2014): 2342. http://dx.doi.org/10.1182/blood.v124.21.2342.2342.
Full textRomasko, 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, no. 22 (December 2, 2016): 3726. http://dx.doi.org/10.1182/blood.v128.22.3726.3726.
Full textVrzalova, Zuzana, Katerina Stano Kozubik, Lenka Radova, Jakub Trizuljak, Sarka Pospisilova, and Michael Doubek. "Characterization of Pathogenic Variants Associated with Hereditary Thrombocytopenias in Families from the Czech Republic." Blood 134, Supplement_1 (November 13, 2019): 2343. http://dx.doi.org/10.1182/blood-2019-122696.
Full textVantyghem, 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 (November 13, 2019): 5771. http://dx.doi.org/10.1182/blood-2019-122958.
Full textFahimi, Hossein, Samira Behroozi, Sadaf Noavar, and Farshid Parvini. "A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss." BMC Medical Genomics 14, no. 1 (February 2, 2021). http://dx.doi.org/10.1186/s12920-021-00884-4.
Full textAdeberg, 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, June 4, 2022. http://dx.doi.org/10.1007/s00401-022-02443-2.
Full textJeppesen, Line Dahl, Lotte Hatt, Ripudaman Singh, Palle Schelde, Lotte Andreasen, Sara Markholt, Dorte L. Lildballe, and 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 (September 14, 2021). http://dx.doi.org/10.3389/fgene.2021.741752.
Full textKlee, Philippe, Mirjam Dirlewanger, Valérie McLin, Maria Teresa Carminho, and 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 (April 2020). http://dx.doi.org/10.1210/jendso/bvaa046.611.
Full textCollins, 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 (March 3, 2020). http://dx.doi.org/10.1161/circ.141.suppl_1.p143.
Full textGalan Carrillo, Isabel, Liliana Galbis, Víctor Martínez Jiménez, Pedro Pablo Ortuño, Susana Roca, Juan David Castro, Fernanda Ramos, Lidia Rodríguez, and Encarnación Guillén. "MO039: Multidisciplinary approach improves genetic diagnosis of Alport syndrome in the next-generation sequencing ERA." Nephrology Dialysis Transplantation 37, Supplement_3 (May 2022). http://dx.doi.org/10.1093/ndt/gfac062.020.
Full textFrança, Monica Malheiros, Xiao Hui Liao, Gustavo Werpel Fernandes, Alina German, Antonio C. Bianco, Samuel Refetoff, and Alexandra Dumitrescu. "OR01-01 Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism." Journal of the Endocrine Society 4, Supplement_1 (April 2020). http://dx.doi.org/10.1210/jendso/bvaa046.966.
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