المؤلفون: Raymond Dalgleish, Dimitra Micha, Andrea Superti-Furga, Fleur S. van Dijk, David O. Sillence

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-3 (2024)

مصطلحات موضوعية: Osteogenesis imperfecta, Nosology, Classification, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/83fccbd25d7a4da1913febfeb89442a0

المؤلفون: Nadia Garibaldi, Roberta Besio, Raymond Dalgleish, Simona Villani, Aileen M. Barnes, Joan C. Marini, Antonella Forlino

المصدر: Disease Models & Mechanisms, Vol 15, Iss 5 (2022)

مصطلحات موضوعية: bone, osteogenesis imperfecta, phenotypic variability, Medicine, Pathology, RB1-214

وصف الملف: electronic resource

Relation: http://dmm.biologists.org/content/15/5/dmm049398; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

URL الوصول: https://doaj.org/article/2931376091714cb2890c2a6ce1153bad

المؤلفون: Nicholas C.P. Cross, Cristina R. Antonescu, Felix Mitelman, Rosalind J. Hastings, Raymond Dalgleish, Bertil Johansson, Arul M. Chinnaiyan, Andrew J. Carroll, Robert Peter Gale, Elspeth A. Bruford, Michelle M. Le Beau, Cristina Mecucci, Jean Loup Huret, Roel G.W. Verhaak, Ian A. Cree, Fredrik Mertens, Christine J. Harrison

المساهمون: Neurosurgery

المصدر: Leukemia, 35(11), 3040-3043. Nature Publishing Group
Bruford, E A, Antonescu, C R, Carroll, A J, Chinnaiyan, A, Cree, I A, Cross, N C P, Dalgleish, R, Gale, R P, Harrison, C J, Hastings, R J, Huret, J-L, Johansson, B, le Beau, M, Mecucci, C, Mertens, F, Verhaak, R & Mitelman, F 2021, ' HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions ', Leukemia, vol. 35, no. 11, pp. 3040-3043 . https://doi.org/10.1038/s41375-021-01436-6
Leukemia

مصطلحات موضوعية: Cancer Research, medicine.medical_specialty, Consensus, Oncogene Proteins, Fusion, Genetic translocation, HUGO Gene Nomenclature Committee, Guidelines as Topic, Scientific literature, Computational biology, Biology, REGION, Fusion gene, 03 medical and health sciences, 0302 clinical medicine, Hyphen, Terminology as Topic, Databases, Genetic, Cancer genomics, medicine, LOCUS, Humans, Cancer genetics, Gene, FUSED TRANSCRIPT, 030304 developmental biology, 0303 health sciences, Leukemia, Consensus Statement, BURKITT-LYMPHOMA, TRANSLOCATION, Genomics, Hematology, 3. Good health, Gene nomenclature, Slash (punctuation), Oncology, 030220 oncology & carcinogenesis, Medical genetics

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9cd766a71a21f9ce7017c82f27e91b1
https://doi.org/10.1038/s41375-021-01436-6

المؤلفون: Raymond Dalgleish, Alexander J. Lazar, Ian A. Cree, Henning Leske, Guido Reifenberger

المصدر: The Journal of Pathology. 254:109-120

مصطلحات موضوعية: 0301 basic medicine, HUGO Gene Nomenclature Committee, Computational biology, DNA sequencing, Pathology and Forensic Medicine, Histones, 03 medical and health sciences, 0302 clinical medicine, Neoplasms, Terminology as Topic, Humans, Gene, Sequence (medicine), biology, Genome, Human, Genetic Variation, High-Throughput Nucleotide Sequencing, Expert consensus, Sequence Analysis, DNA, Human genetics, Pathologists, 030104 developmental biology, Histone, 030220 oncology & carcinogenesis, Mutation, biology.protein, Human genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fa7223f4f5ef1ea57ee4b02b9299363
https://doi.org/10.1002/path.5666

المؤلفون: J Des Parkin, James D San Antonio, Anton V Persikov, Hayat Dagher, Raymond Dalgleish, Shane T Jensen, Xavier Jeunemaitre, Judy Savige

المصدر: PLoS ONE, Vol 12, Iss 7, p e0175582 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5509119?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/958b23c874db42d29f3955a5ae78635a

المؤلفون: Raymond Dalgleish

المصدر: Osteoporosis International. 33:1403-1404

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d097d8fd28c94991e3ecf45acac1bf2a
https://doi.org/10.1007/s00198-022-06334-w

المؤلفون: David Neil Cooper, Katsushi Tokunaga, Teri E. Klein, Karen E. Weck, Adya Misra, Johan T. den Dunnen, Kay E. Davies, Greg Barsh, Raymond Dalgleish, Sarah Ratzel, Huw Dorkins, Sara B. Cullinan, Jan Higgins, Heidi L. Rehm, Garry R. Cutting, Juergen K. V. Reichardt, Issei Imoto, Peter Freeman, Bruce R. Korf, Li Gong, Mark H. Paalman

المصدر: Human Mutation: Variation, Informatics and Disease, 42(1), 3-7. WILEY
Higgins, J, Dalgleish, R, den Dunnen, J T, Barsh, G, Freeman, P J, Cooper, D N, Cullinan, S, Davies, K E, Dorkins, H, Gong, L, Imoto, I, Klein, T E, Korf, B, Misra, A, Paalman, M H, Ratzel, S, Reichardt, J K V, Rehm, H L, Tokunaga, K, Weck, K E & Cutting, G R 2020, ' Verifying Nomenclature of DNA Variants in Submitted Manuscripts : Guidance for Journals ', Human Mutation, vol. 42, no. 1, pp. 3-7 . https://doi.org/10.1002/humu.24144
Hum Mutat

مصطلحات موضوعية: Human Genome Variation Society, Leiden Open Variation Database, Human Variome Project, Pilot Projects, DNA variants, Computational biology, Dna variants, Biology, Genome, Article, 03 medical and health sciences, Terminology as Topic, Human Genome Project, Genetics, Humans, Clinical care, Nomenclature, Genetics (clinical), Human Genome Variation Society nomenclature, 030304 developmental biology, 0303 health sciences, Genome, Human, Publications, 030305 genetics & heredity, Genetic Variation, ClinVar, DNA, Variation (linguistics), Periodicals as Topic

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a90f3a67def515123e59ab0ee9df5169
http://hdl.handle.net/1887/3195913

المؤلفون: J. Thompson, Farook Al-Azzawi, Maja Ivanisevic, Milina Tancic, Svetlana Dragojevic-Dikic, Miomira Ivovic, Jin Li, Raymond Dalgleish, Svetlana Vujovic

المصدر: Climacteric. 21:472-477

مصطلحات موضوعية: Adult, 0301 basic medicine, medicine.medical_specialty, Estrogen receptor, Primary Ovarian Insufficiency, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Estrogen Receptor beta, Humans, Genetic Predisposition to Disease, Gene, Estrogen receptor beta, Polymorphism, Genetic, 030219 obstetrics & reproductive medicine, business.industry, Estrogen Receptor alpha, Obstetrics and Gynecology, General Medicine, medicine.disease, 3. Good health, Premature ovarian failure, Androgen receptor, Logistic Models, 030104 developmental biology, Endocrinology, Receptors, Androgen, Case-Control Studies, Cohort, Microsatellite, Female, business, Serbia, Estrogen receptor alpha, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1ff91f964ad1b36eac9c68eb71b9b3e
https://doi.org/10.1080/13697137.2018.1476967

المؤلفون: Raymond Dalgleish

المصدر: Human Mutation. 37:532-539

مصطلحات موضوعية: 0301 basic medicine, Genetics, Globin genes, Cataloging, 030105 genetics & heredity, Biology, Witness, Genealogy, Clinical Practice, 03 medical and health sciences, Disease susceptibility, 030104 developmental biology, Drug reaction, Sequence variation, Genetics (clinical), Reference genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2232adf31f48e63421b55673839e528d
https://doi.org/10.1002/humu.22979

المؤلفون: Tim Beck, Anthony J. Brookes, Raymond Dalgleish, Colin Veal, Morris A. Swertz, Dhiwagaran Thangavelu, David Atlan, Owen Lancaster

المساهمون: Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

المصدر: Human Mutation, 36(10), 957-964. Wiley

مصطلحات موضوعية: Genotype, Interface (computing), Data field, rare disease, Biology, Web Browser, computer.software_genre, World Wide Web, User-Computer Interface, Rare Diseases, Genetics, Humans, Genetic Predisposition to Disease, Cafe Variome, Genetics (clinical), Simple (philosophy), Information Dissemination, software, Data discovery, Databases, Bibliographic, genotype-phenotype, Data sharing, Variome, Phenotype, Search box, Matchmaker Exchange, data discovery, Web service, computer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e283d0fbf6682549573c9c71f10a318c
https://research.rug.nl/en/publications/d4882e6d-44da-4e5e-8b03-966110fb7e42