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1دورية أكاديمية
المؤلفون: Yang, Ciyu, Misyura, Maksym, Kane, Sarah, Rai, Vikas, Latham, Alicia, Zhang, Liying
المصدر: Molecular Genetics & Genomic Medicine. 11(2)
مصطلحات موضوعية: Cancer, Genetics, Clinical Research, Rare Diseases, Genetic Testing, Prevention, 2.1 Biological and endogenous factors, Aetiology, Humans, Female, Middle Aged, Colorectal Neoplasms, Hereditary Nonpolyposis, MutS Homolog 2 Protein, DNA-Binding Proteins, MutL Protein Homolog 1, Endometrial Neoplasms, Neoplastic Syndromes, Hereditary, Germ Cells, c, 4001G > C, germline, Lynch syndrome, MSH6, splice site variant, c.4001G > C, Medicinal and Biomolecular Chemistry, Clinical Sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8505726t
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2دورية أكاديمية
المؤلفون: Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
مصطلحات موضوعية: Genome sequencing, Rare diseases, Structural variant, Splice site variant, Non-coding, Diagnostic yield, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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3دورية أكاديمية
المؤلفون: Pagnamenta, Alistair T.Aff1, Aff2, Camps, CarmeAff1, Aff2, Giacopuzzi, EdoardoAff1, Aff2, Aff3, Taylor, John M.Aff2, Aff4, Hashim, MonaAff1, Aff2, Calpena, EduardoAff2, Aff5, Kaisaki, Pamela J.Aff1, Aff2, Hashimoto, Akiko, Yu, JingAff1, Aff2, Sanders, Edward, Schwessinger, Ron, Hughes, Jim R., Lunter, GertonAff5, Aff6, Dreau, HeleneAff2, Aff7, Ferla, MatteoAff1, Aff2, Lange, LukasAff1, Aff2, Kesim, YesimAff1, Aff2, Ragoussis, VassilisAff1, Aff2, Vavoulis, Dimitrios V.Aff1, Aff2, Aff7, Allroggen, Holger, Ansorge, Olaf, Babbs, Christian, Banka, SiddharthAff10, Aff11, Baños-Piñero, Benito, Beeson, DavidAff5, Aff9, Ben-Ami, Tal, Bennett, David L., Bento, Celeste, Blair, EdwardAff2, Aff14, Brasch-Andersen, Charlotte, Bull, Katherine R.Aff1, Aff16, Cario, Holger, Cilliers, Deirdre, Conti, Valerio, Davies, E. Graham, Dhalla, Fatima, Dacal, Beatriz Diez, Dong, YinAff5, Aff9, Dunford, James E., Guerrini, Renzo, Harris, Adrian L., Hartley, Jane, Hollander, Georg, Javaid, Kassim, Kane, Maureen, Kelly, Deirdre, Kelly, Dominic, Knight, Samantha J. L.Aff1, Aff2, Kreins, Alexandra Y., Kvikstad, Erika M.Aff1, Aff2, Langman, Craig B., Lester, Tracy, Lines, Kate E.Aff2, Aff28, Lord, Simon R., Lu, Xin, Mansour, Sahar, Manzur, Adnan, Maroofian, Reza, Marsden, Brian, Mason, Joanne, McGowan, Simon J., Mei, Davide, Mlcochova, Hana, Murakami, Yoshiko, Németh, Andrea H.Aff9, Aff14, Okoli, Steven, Ormondroyd, ElizabethAff2, Aff38, Ousager, Lilian Bomme, Palace, Jacqueline, Patel, Smita Y., Pentony, Melissa M.Aff1, Aff2, Pugh, Chris, Rad, Aboulfazl, Ramesh, ArchanaAff1, Aff9, Riva, Simone G., Roberts, IreneAff5, Aff24, Roy, Noémi, Salminen, OutiAff2, Aff7, Schilling, Kyleen D., Scott, Caroline, Sen, Arjune, Smith, Conrad, Stevenson, Mark, Thakker, Rajesh V., Twigg, Stephen R. F., Uhlig, Holm H.Aff2, Aff24, Aff43, van Wijk, Richard, Vona, BarbaraAff40, Aff45, Aff46, Wall, Steven, Wang, Jing, Watkins, HughAff2, Aff38, Zak, JaroslavAff30, Aff48, Schuh, Anna H., Kini, UshaAff2, Aff14, Wilkie, Andrew O. M.Aff2, Aff5, Popitsch, NikoAff1, Aff2, Aff49, Taylor, Jenny C.Aff1, Aff2, IDs13073023012400_cor97
المصدر: Genome Medicine. 15(1)
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4دورية أكاديمية
المؤلفون: Daryoush Saeed-Vafa, Kyriakos Chatzopoulos, Juan Hernandez-Prera, Pedro Cano, James J. Saller, Julie E. Hallanger Johnson, Bryan McIver, Theresa A. Boyle
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: medullary thyroid carcinoma, RET, splice site variant, thyroid, endocrine, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Anya T. Joynt, Erin W. Kavanagh, Gregory A. Newby, Shakela Mitchell, Alice C. Eastman, Kathleen C. Paul, Alyssa D. Bowling, Derek L. Osorio, Christian A. Merlo, Shivani U. Patel, Karen S. Raraigh, David R. Liu, Neeraj Sharma, Garry R. Cutting
المصدر: Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 335-350 (2023)
مصطلحات موضوعية: MT: RNA/DNA Editing, canonical splice site variant, CSSV, CRISPR-Cas9-mediated adenine base editing, ABE, primary airway epithelial cells, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Zhao, Xiangyue, Yu, Tingting, Tang, Jie, Yao, Ru-en, Li, Niu, Wang, JianAff1, IDs10048023007111_cor6
المصدر: neurogenetics. 24(2):95-101
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7دورية أكاديمية
المؤلفون: Gloria Fraga, M. Alba Herreros, Marc Pybus, Miriam Aza-Carmona, Melissa Pilco-Teran, Mónica Furlano, M. José García-Borau, Roser Torra, Elisabet Ars
المصدر: Genes, Vol 15, Iss 6, p 679 (2024)
مصطلحات موضوعية: X-linked hypophosphatemia, PHEX gene, non-canonical splice site variant, Genetics, QH426-470
وصف الملف: electronic resource
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8
المؤلفون: Horn, Svea, Danyel, Magdalena, Erdmann, Nina, Boschann, Felix, Gunnarsson, Cecilia, 1970, Biskup, Saskia, Juengling, Jerome, Potratz, Cornelia, Prager, Christine, Kaindl, Angela M.
المصدر: Frontiers in Neurology. 13
مصطلحات موضوعية: KPTN gene, macrocephaly, neurodevelopment delay, epilepsy, splice site variant
وصف الملف: electronic
URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-191744
https://liu.diva-portal.org/smash/get/diva2:1736334/FULLTEXT01.pdf -
9دورية أكاديمية
المؤلفون: Sinan Li, Wenxin Zhang, Piao Liang, Min Zhu, Bixia Zheng, Wei Zhou, Chunli Wang, Xiaoke Zhao
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: intellectual disability, MRXSRC, CLCN4 gene, missense variant, splice site variant, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Yilun Tao, Lin Yang, Dong Han, Chen Zhao, Wenxia Song, Haiwei Wang, Xiaoze Li, Lihong Wang
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: GATA3 gene, HDR syndrome, next-generation sequencing, splice site variant, review, Genetics, QH426-470
وصف الملف: electronic resource