المؤلفون: Koen Swaerts, Franceska Dedeurwaerdere, Dieter De Smet, Peter De Jaeger, Geert A. Martens

المصدر: BMC Bioinformatics, Vol 24, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Microsatellite instability, Indel length distribution analysis, DNA mismatch repair deficiency, Targeted resequencing, Immunotherapy, Logistic regression, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2105Test

الوصول الحر: https://doaj.org/article/1d4a595a18144849bd933c0cabba752fTest

المؤلفون: Jiajun Yin, Juan Zhou, Fang Fang, Shui Yu, Jun Wang, Jianmin Yuan, Zhenhe Zhou

المصدر: Frontiers in Molecular Neuroscience, Vol 16 (2023)

مصطلحات موضوعية: VIPR2 gene, schizophrenia, amplicon targeted resequencing, association study, causative variants, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2023.1170708/fullTest; https://doaj.org/toc/1662-5099Test

الوصول الحر: https://doaj.org/article/8ab7747ad6c34b39a04d2aecc82b7769Test

المؤلفون: Mario Benvenuto, Pietro Palumbo, Ester Di Muro, Concetta Simona Perrotta, Tommaso Mazza, Giuseppa Maria Luana Mandarà, Orazio Palumbo, Massimo Carella

المصدر: Genes, Vol 14, Iss 10, p 1958 (2023)

مصطلحات موضوعية: FOXP1, targeted resequencing, neurodevelopmental disorders, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/10/1958Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/e87451368fd94d31b1a3bf382f6a074cTest

المؤلفون: Moore, Camille, Blumhagen, Rachel Z, Yang, Ivana V, Walts, Avram, Powers, Julie, Walker, Tarik, Bishop, Makenna, Russell, Pamela, Vestal, Brian, Cardwell, Jonathan, Markin, Cheryl R, Mathai, Susan K, Schwarz, Marvin I, Steele, Mark P, Lee, Joyce, Brown, Kevin K, Loyd, James E, Crapo, James D, Silverman, Edwin K, Cho, Michael H, James, Judith A, Guthridge, Joel M, Cogan, Joy D, Kropski, Jonathan A, Swigris, Jeffrey J, Bair, Carol, Kim, Dong Soon, Ji, Wonjun, Kim, Hocheol, Song, Jin Woo, Maier, Lisa A, Pacheco, Karin A, Hirani, Nikhil, Poon, Azin S, Li, Feng, Jenkins, R Gisli, Braybrooke, Rebecca, Saini, Gauri, Maher, Toby M, Molyneaux, Philip L, Saunders, Peter, Zhang, Yingze, Gibson, Kevin F, Kass, Daniel J, Rojas, Mauricio, Sembrat, John, Wolters, Paul J, Collard, Harold R, Sundy, John S, O’Riordan, Thomas, Strek, Mary E, Noth, Imre, Ma, Shwu-Fan, Porteous, Mary K, Kreider, Maryl E, Patel, Namrata B, Inoue, Yoshikazu, Hirose, Masaki, Arai, Toru, Akagawa, Shinobu, Eickelberg, Oliver, Fernandez, Isis Enlil, Behr, Jürgen, Mogulkoc, Nesrin, Corte, Tamera J, Glaspole, Ian, Tomassetti, Sara, Ravaglia, Claudia, Poletti, Venerino, Crestani, Bruno, Borie, Raphael, Kannengiesser, Caroline, Parfrey, Helen, Fiddler, Christine, Rassl, Doris, Molina-Molina, Maria, Machahua, Carlos, Worboys, Ana Montes, Gudmundsson, Gunnar, Isaksson, Helgi J, Lederer, David J, Podolanczuk, Anna J, Montesi, Sydney B, Bendstrup, Elisabeth, Danchel, Vivi, Selman, Moises, Pardo, Annie, Henry, Michael T, Keane, Michael P, Doran, Peter, Vašáková, Martina, Sterclova, Martina, Ryerson, Christopher J, Wilcox, Pearce G, Okamoto, Tsukasa, Furusawa, Haruhiko, Miyazaki, Yasunari, Laurent, Geoffrey, Baltic, Svetlana, Prele, Cecilia

المصدر: American Journal of Respiratory and Critical Care Medicine. 200(2)

مصطلحات موضوعية: Human Genome, Autoimmune Disease, Clinical Research, Lung, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, ATP-Binding Cassette Transporters, Case-Control Studies, Cellular Senescence, DNA Helicases, Exoribonucleases, Female, GTPase-Activating Proteins, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, High-Throughput Nucleotide Sequencing, Host-Pathogen Interactions, Humans, Idiopathic Pulmonary Fibrosis, Logistic Models, Male, Mucin-5B, Promoter Regions, Genetic, Pulmonary Surfactant-Associated Protein A, Pulmonary Surfactant-Associated Protein C, RNA, Sequence Analysis, DNA, Telomerase, Telomere-Binding Proteins, targeted resequencing, idiopathic pulmonary fibrosis, genetic variants, rare variants, disease risk alleles, Medical and Health Sciences, Respiratory System

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5cw3q5dqTest

المؤلفون: Swaerts, Koen, Dedeurwaerdere, Franceska, De Smet, Dieter, De Jaeger, Peter, Martens, Geert

المصدر: BMC BIOINFORMATICS ; ISSN: 1471-2105

مصطلحات موضوعية: Medicine and Health Sciences, Technology and Engineering, COLORECTAL-CANCER PATIENTS, LYNCH-SYNDROME, IMMUNOHISTOCHEMISTRY, RISK, UTILITY, HMLH1, Microsatellite instability, Indel length distribution analysis, DNA mismatch repair deficiency, Targeted resequencing, Immunotherapy, Logistic regression, Support vector machine, Machine learning

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/01H432QG45B24GB32QFXF1HWHJTest; http://hdl.handle.net/1854/LU-01H432QG45B24GB32QFXF1HWHJTest; http://dx.doi.org/10.1186/s12859-023-05186-3Test; https://biblio.ugent.be/publication/01H432QG45B24GB32QFXF1HWHJ/file/01H432RM1B0AVM35DFXV3785C0Test

الإتاحة: https://doi.org/10.1186/s12859-023-05186-3Test
https://biblio.ugent.be/publication/01H432QG45B24GB32QFXF1HWHJTest
http://hdl.handle.net/1854/LU-01H432QG45B24GB32QFXF1HWHJTest
https://biblio.ugent.be/publication/01H432QG45B24GB32QFXF1HWHJ/file/01H432RM1B0AVM35DFXV3785C0Test

المؤلفون: La Fleur, Linnéa, Falk-Sörqvist, Elin, Smeds, Patrik, Berglund, Anders, Sundström, Magnus, Mattsson, Johanna S. M., Brandén, Eva, Koyi, Hirsh, Isaksson, Johan, Brunnström, Hans, Nilsson, Mats, Micke, Patrick, Moens, Lotte, Botling, Johan

المصدر: Lung Cancer. 130:50-58

مصطلحات موضوعية: Non-small cell lung cancer, Targeted resequencing, Mutation patterns, KRAS, TP53, STK11

وصف الملف: print

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:su:diva-168651Test
https://doi.org/10.1016/j.lungcan.2019.01.003Test

المؤلفون: Roma, Cristin, Esposito Abate, Riziero, Sacco, Alessandra, Califano, Daniela, Arenare, Laura, Bergantino, Francesca, Pisano, Carmela, Cecere, Sabrina Chiara, Scambia, Giovanni, Lorusso, Domenica, Artioli, Grazia, Tasca, Giulia, Spina, Anna, Russo, Daniela, Gadducci, Angiolo, De Angelis, Carmine, Bologna, Alessandra, Marchini, Sergio, Capoluongo, Ettore Domenico, Perrone, Francesco, Pignata, Sandro, Normanno, Nicola

المصدر: Eur J Cancer ; ISSN:1879-0852 ; Volume:206

مصطلحات موضوعية: Homologous Recombination Deficiency, Ovarian Cancer, Targeted resequencing

العلاقة: https://doi.org/10.1016/j.ejca.2024.114127Test; https://pubmed.ncbi.nlm.nih.gov/38797038Test

الإتاحة: https://doi.org/10.1016/j.ejca.2024.114127Test
https://pubmed.ncbi.nlm.nih.gov/38797038Test

المؤلفون: Lisse J. M. Tavernier, Thomas Vanpoucke, Isabelle Schrauwen, Guy Van Camp, Erik Fransen

المصدر: Journal of Clinical Medicine, Vol 11, Iss 23, p 6978 (2022)

مصطلحات موضوعية: otosclerosis, hearing loss, targeted resequencing, replication, gene analysis, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/11/23/6978Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/30ecda973c414a19929ee3bed659a1f0Test

المؤلفون: Kanako Ishizuka, Tomoyuki Yoshida, Takeshi Kawabata, Ayako Imai, Hisashi Mori, Hiroki Kimura, Toshiya Inada, Yuko Okahisa, Jun Egawa, Masahide Usami, Itaru Kushima, Mako Morikawa, Takashi Okada, Masashi Ikeda, Aleksic Branko, Daisuke Mori, Toshiyuki Someya, Nakao Iwata, Norio Ozaki

المصدر: Journal of Neurodevelopmental Disorders, Vol 12, Iss 1, Pp 1-16 (2020)

مصطلحات موضوعية: NRXN1, Neurodevelopmental disorder, Autism spectrum disorders, Schizophrenia, Targeted resequencing, Ultra-rare variants, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s11689-020-09325-2Test; https://doaj.org/toc/1866-1947Test; https://doaj.org/toc/1866-1955Test

الوصول الحر: https://doaj.org/article/e74c4827f25246839c35ab5f49759197Test

المؤلفون: Bailetti D., Sentinelli F., Prudente S., Cimini F. A., Barchetta I., Totaro M., Di Costanzo A., Barbonetti A., Leonetti F., Cavallo M. G., Baroni M. G.

المساهمون: Bailetti, D., Sentinelli, F., Prudente, S., Cimini, F. A., Barchetta, I., Totaro, M., Di Costanzo, A., Barbonetti, A., Leonetti, F., Cavallo, M. G., Baroni, M. G.

مصطلحات موضوعية: diabete, disposition index, extreme, insulin resistance, insulin secretion, next-generation sequencing, obesity, targeted resequencing

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35163144; info:eu-repo/semantics/altIdentifier/wos/WOS:000755355500001; volume:23; issue:3; firstpage:1; lastpage:13; numberofpages:13; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11573/1624617Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123066737

الإتاحة: https://doi.org/10.3390/ijms23031221Test
http://hdl.handle.net/11573/1624617Test