المؤلفون: Shuang Li, K. Joeri van der Velde, Dick de Ridder, Aalt D. J. van Dijk, Dimitrios Soudis, Leslie R. Zwerwer, Patrick Deelen, Dennis Hendriksen, Bart Charbon, Marielle E. van Gijn, Kristin Abbott, Birgit Sikkema-Raddatz, Cleo C. van Diemen, Wilhelmina S. Kerstjens-Frederikse, Richard J. Sinke, Morris A. Swertz

المصدر: Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)

مصطلحات موضوعية: Variant pathogenicity prediction, Machine learning, Exome sequencing, Molecular consequence, Allele frequency, Clinical genetics, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13073-020-00775-wTest; https://doaj.org/toc/1756-994XTest

الوصول الحر: https://doaj.org/article/aa39ee356dcc409a882f0c4904055b68Test

المؤلفون: K. Joeri van der Velde, Gurnoor Singh, Rajaram Kaliyaperumal, XiaoFeng Liao, Sander de Ridder, Susanne Rebers, Hindrik H. D. Kerstens, Fernanda de Andrade, Jeroen van Reeuwijk, Fini E. De Gruyter, Saskia Hiltemann, Maarten Ligtvoet, Marjan M. Weiss, Hanneke W. M. van Deutekom, Anne M. L. Jansen, Andrew P. Stubbs, Lisenka E. L. M. Vissers, Jeroen F. J. Laros, Esther van Enckevort, Daphne Stemkens, Peter A. C. ‘t Hoen, Jeroen A. M. Beliën, Mariëlle E. van Gijn, Morris A. Swertz

المصدر: Scientific Data, Vol 9, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Science

العلاقة: https://doi.org/10.1038/s41597-022-01265-xTest; https://doaj.org/toc/2052-4463Test; https://doaj.org/article/211fcca7dc174d6ebd564f8d9a33709bTest

الإتاحة: https://doi.org/10.1038/s41597-022-01265-xTest
https://doaj.org/article/211fcca7dc174d6ebd564f8d9a33709bTest

المؤلفون: Zhenhua Zhang, Freerk van Dijk, Niek de Klein, Mariëlle E van Gijn, Lude H Franke, Richard J Sinke, Morris A Swertz, K Joeri van der Velde

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Medicine, Science

العلاقة: https://doi.org/10.1038/s41598-021-89904-yTest; https://doaj.org/toc/2045-2322Test; https://doaj.org/article/046bc28e1cc24a58a64d6f222d461d04Test

الإتاحة: https://doi.org/10.1038/s41598-021-89904-yTest
https://doaj.org/article/046bc28e1cc24a58a64d6f222d461d04Test

المؤلفون: Tayfun Hilmi Akbaba, Yeliz Z. Akkaya-Ulum, Ezgi Deniz Batu, Federica Penco, Helmut Wittkowski, Benjamin Kant, Marielle E. van Gijn, Dirk Foell, Marco Gattorno, Seza Ozen, Banu Balci-Peynircioglu

المصدر: Journal of Molecular Medicine.

مصطلحات موضوعية: Drug Discovery, Molecular Medicine, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::19d824533a13124c2d324409c7c198c3Test
https://doi.org/10.1007/s00109-023-02327-2Test

المؤلفون: Yael Shinar, Isabella Ceccherini, Dorota Rowczenio, Ivona Aksentijevich, Juan Arostegui, Eldad Ben-Chétrit, Guilaine Boursier, Marco Gattorno, Hasmik Hayrapetyan, Hiroaki Ida, Nobuo Kanazawa, Helen J Lachmann, Anna Mensa-Vilaro, Ryuta Nishikomori, Christian Oberkanins, Laura Obici, Osamu Ohara, Seza Ozen, Tamara Sarkisian, Katie Sheils, Nicola Wolstenholme, Evelien Zonneveld-Huijssoon, Marielle E van Gijn, Isabelle Touitou

مصطلحات موضوعية: Clinical Biochemistry, Biochemistry, medical

العلاقة: url:https://www.openaccessrepository.it/communities/itmirrorTest; https://www.openaccessrepository.it/record/45776Test

الإتاحة: https://doi.org/10.1093/clinchem/hvaa024Test
https://www.openaccessrepository.it/record/45776Test

المؤلفون: Michael A Gargano, Nicolas Matentzoglu, Ben Coleman, Eunice B Addo-Lartey, Anna V Anagnostopoulos, Joel Anderton, Paul Avillach, Anita M Bagley, Eduard Bakštein, James P Balhoff, Gareth Baynam, Susan M Bello, Michael Berk, Holli Bertram, Somer Bishop, Hannah Blau, David F Bodenstein, Pablo Botas, Kaan Boztug, Jolana Čady, Tiffany J Callahan, Rhiannon Cameron, Seth J Carbon, Francisco Castellanos, J Harry Caufield, Lauren E Chan, Christopher G Chute, Jaime Cruz-Rojo, Noémi Dahan-Oliel, Jon R Davids, Maud de Dieuleveult, Vinicius de Souza, Bert BA de Vries, Esther de Vries, J Raymond DePaulo, Beata Derfalvi, Ferdinand Dhombres, Claudia Diaz-Byrd, Alexander JM Dingemans, Bruno Donadille, Michael Duyzend, Reem Elfeky, Shahim Essaid, Carolina Fabrizzi, Giovanna Fico, Helen V Firth, Yun Freudenberg-Hua, Janice M Fullerton, Davera L Gabriel, Kimberly Gilmour, Jessica Giordano, Fernando S Goes, Rachel Gore Moses, Ian Green, Matthias Griese, Tudor Groza, Weihong Gu, Julia Guthrie, Benjamin Gyori, Ada Hamosh, Marc Hanauer, Kateřina Hanušová, Yongqun Oliver He, Harshad Hegde, Ingo Helbig, Kateřina Holasová, Charles Tapley Hoyt, Shangzhi Huang, Eric Hurwitz, Julius OB Jacobsen, Xiaofeng Jiang, Lisa Joseph, Kamyar Keramatian, Bryan King, Katrin Knoflach, David A Koolen, Megan L Kraus, Carlo Kroll, Maaike Kusters, Markus S Ladewig, David Lagorce, Meng-Chuan Lai, Pablo Lapunzina, Bryan Laraway, David Lewis-Smith, Xiarong Li, Caterina Lucano, Marzieh Majd, Mary L Marazita, Victor Martinez-Glez, Toby H McHenry, Melvin G McInnis, Julie A McMurry, Michaela Mihulová, Caitlin E Millett, Philip B Mitchell, Veronika Moslerová, Kenji Narutomi, Shahrzad Nematollahi, Julian Nevado, Andrew A Nierenberg, Nikola Novák Čajbiková, John I Nurnberger, Soichi Ogishima, Daniel Olson, Abigail Ortiz, Harry Pachajoa, Guiomar Perez de Nanclares, Amy Peters, Tim Putman, Christina K Rapp, Ana Rath, Justin Reese, Lauren Rekerle, Angharad M Roberts, Suzy Roy, Stephan J Sanders, Catharina Schuetz, Eva C Schulte, Thomas G Schulze, Martin Schwarz, Katie Scott, Dominik Seelow, Berthold Seitz, Yiping Shen, Morgan N Similuk, Eric S Simon, Balwinder Singh, Damian Smedley, Cynthia L Smith, Jake T Smolinsky, Sarah Sperry, Elizabeth Stafford, Ray Stefancsik, Robin Steinhaus, Rebecca Strawbridge, Jagadish Chandrabose Sundaramurthi, Polina Talapova, Jair A Tenorio Castano, Pavel Tesner, Rhys H Thomas, Audrey Thurm, Marek Turnovec, Marielle E van Gijn, Nicole A Vasilevsky, Markéta Vlčková, Anita Walden, Kai Wang, Ron Wapner, James S Ware, Addo A Wiafe, Samuel A Wiafe, Lisa D Wiggins, Andrew E Williams, Chen Wu, Margot J Wyrwoll, Hui Xiong, Nefize Yalin, Yasunori Yamamoto, Lakshmi N Yatham, Anastasia K Yocum, Allan H Young, Zafer Yüksel, Peter P Zandi, Andreas Zankl, Ignacio Zarante, Miroslav Zvolský, Sabrina Toro, Leigh C Carmody, Nomi L Harris, Monica C Munoz-Torres, Daniel Danis, Christopher J Mungall, Sebastian Köhler, Melissa A Haendel, Peter N Robinson

مصطلحات موضوعية: Biological sciences, Chemical sciences, Environmental sciences, Information and computing sciences, Uncategorised value

العلاقة: 10779/DRO/DU:24562858.v1; https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858Test

الإتاحة: https://figshare.com/articles/journal_contribution/The_Human_Phenotype_Ontology_in_2024_phenotypes_around_the_world/24562858Test

المؤلفون: Zou Pan, Marielle E. van Gijn, Marjolein H. Willemsen, Mariet W. Elting, Susanne Koning, Daniel C. Koboldt, Rebecca Baud, Renzo Guerrini, Ghayda M. Mirzaa, Laurence E. Walsh, Kim L. McBride, Jenny Thies, Andrew E. Timms, Shaoping Huang, Gretchen E. Rosso, Joshua Scheck, Haley McConkey, Matthew A. Deardorff, Peter D. Turnpenny, Suzanne M. Leal, Sanjay M. Sisodiya, Lin Yang, Melissa Lees, Cacha M.P.C.D. Peeters-Scholte, Henry Houlden, Marielle Alders, J. Austin Hamm, Karla A. Peña-Guerra, Richard E. Person, Leena Lauronen, Hannah K. Robinson, Theresa Mihalic Mosher, Alexandra Garza-Flores, Victoria Harrison, Tuomo Määttä, Daniela Q.C.M. Barge-Schaapveld, James R. Lupski, Houda Zghal Elloumi, Francisco J. Guzmán-Vega, Tamison Jewett, Siddharth Banka, Barbara W. van Paassen, J. Lawrence Merritt, Angela Sun, Yana Lara-Taranchenko, Irma Järvelä, Ivan K. Chinn, Claudia A. L. Ruivenkamp, Nicholas M. Allen, Xiaodong Wang, Amy Crunk, Selina H. Banu, Maura R.Z. Ruzhnikov, Jeffery McGlothlin, Mashaya Zaman, Adam Jackson, Stefan T. Arold, Bert B.A. de Vries, Jing Peng, Lauren Schenck, Isabelle Schrauwen, Marjon van Slegtenhorst, Luis Alberto Pedroza, Bekim Sadikovic, Annalisa Vetro, Reshmi Ramakrishnan, Kristin G. Monaghan, Kelly J. Cardona-Londoño, Catherine Quindipan, Kristina Lanko, Rolph Pfundt, Caroline M. Kehoe, Martino Montomoli, Christian Gilissen, Hamid Galehdari, Yolande van Bever, Jennifer Keller-Ramey, Sadegheh Haghshenas, Neda Mazaheri, Stephanie Efthymiou, Reza Maroofian, Lewis Pang, Fleur Vansenne, Abeltje M. Polstra, Kara C. Klemp, Marjolein J.A. Weerts, Xi Lin, Julia Baptista, Tahsin Stefan Barakat, Anneke Kievit, Adi Reich, Stephen R. Braddock, Shehla Mohammed, Abbey M. Putnam, Jennifer Kerkhof, Matthew Pastore, Sally Ann Lynch

المساهمون: Graduate School, ANS - Neuroinfection & -inflammation, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output, Human genetics, VU University medical center, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Irma Järvelä / Principal Investigator, Medicum, Department of Medical and Clinical Genetics, HUS Medical Imaging Center, Clinicum, BioMag Laboratory, HUS Children and Adolescents, Kliinisen neurofysiologian yksikkö

المصدر: Genetics in Medicine
Genetics in medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. SPRINGERNATURE
Genetics in Medicine, 23(11), 2122-2137. Nature Publishing Group
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in Medicine, vol. 23, no. 11, pp. 2122-2137 . https://doi.org/10.1038/s41436-021-01246-2Test
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams and Wilkins
Genetics in Medicine, 23(11), 2122-2137. Lippincott Williams & Wilkins
Genetics in Medicine, 23, 2122-2137
Genetics in Medicine, 23, 11, pp. 2122-2137
Genomics England Research Consortium 2021, ' Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-021-01246-2Test

مصطلحات موضوعية: Male, INTELLECTUAL DISABILITY, GENES, Language delay, VARIANTS, Biology, Bioinformatics, 3124 Neurology and psychiatry, Article, 12Q24.31, SETD1B, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Neurodevelopmental disorder, Seizures, Intellectual disability, medicine, Humans, MICRODELETION, Global developmental delay, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], 3112 Neurosciences, RECOGNITION, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Histone-Lysine N-Methyltransferase, medicine.disease, Penetrance, Human genetics, Phenotype, Neurodevelopmental Disorders, MOTIF, Autism, METHYLTRANSFERASE, 3111 Biomedicine, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23e4f87d1b2de6f4ec6880e740ae29d4Test
https://doi.org/10.1038/s41436-021-01246-2Test

المؤلفون: M.C. Bolling, Peter C. van den Akker, Vigfús Sigurdsson, Edwin Cuperus, Suzanne G.M.A. Pasmans, Marielle E. van Gijn

المساهمون: Transplantation Immunology Groningen, Dermatology

المصدر: Journal der deutschen dermatologischen gesellschaft, 19(4), 608-614. Wiley
JDDG-Journal of the German Society of Dermatology, 19(4), 611-614. Wiley-Blackwell Publishing Ltd

مصطلحات موضوعية: Dermatology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6ee8259c051692c9d7f14d9337b7125Test
https://doi.org/10.1111/ddg.14298_gTest

المؤلفون: Jaap Jan Boelens, Marielle E. van Gijn, Andrica C H de Vries, Floor C. H. Abbink, Caroline A. Lindemans, Renate G. van der Molen, Cor van den Bos, Bas M. Smits, Samuel A. Merrill, Lisette van de Corput, Natasja Dors, Stefan Nierkens, Joris M. van Montfrans

المساهمون: Pediatrics

المصدر: Journal of Clinical Immunology, 41, 1219-1228
Journal of Clinical Immunology, 41(6), 1219-1228. Springer New York
Journal of Clinical Immunology
Journal of Clinical Immunology, 41, 6, pp. 1219-1228

مصطلحات موضوعية: Male, Pediatrics, medicine.disease_cause, 0302 clinical medicine, hemic and lymphatic diseases, Immunology and Allergy, Child, Aged, 80 and over, Middle Aged, musculoskeletal system, Predictive value, 030220 oncology & carcinogenesis, Child, Preschool, Increased triglycerides, Original Article, Female, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], HLH, Adult, medicine.medical_specialty, clustering analysis, endocrine system, Adolescent, Immunology, Sensitivity and Specificity, Lymphohistiocytosis, Hemophagocytic, 03 medical and health sciences, Young Adult, Low fibrinogen, Predictive Value of Tests, Immune Cell Activation, Cell Line, Tumor, medicine, Humans, Aged, Retrospective Studies, Cytopenia, Hemophagocytic lymphohistiocytosis, business.industry, fungi, Infant, Newborn, Increased ferritin, Infant, Immune dysregulation, medicine.disease, hemophagocytic lymphohistiocytosis, diagnostic criteria, business, K562 Cells, 030215 immunology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce35fbdcd2ccd653fa8df04d627f87e1Test
https://doi.org/10.1007/s10875-021-01005-7Test

المؤلفون: Mihai G. Netea, David B. Beck, A. Elizabeth Hak, Huub P.J. Willems, Pieter van Paassen, Caspar I van der Made, Marielle E. van Gijn, Frank L. van de Veerdonk, Arjan J. Kwakernaak, Lars T. van der Veken, Marloes W Heijstek, Annemiek Hoogstins, Alexander Hoischen, Ruud G. L. de Sévaux, Helen L. Leavis, Paul L A van Daele, Abraham Rutgers, Judith Potjewijd, Annet Simons

المساهمون: Translational Immunology Groningen (TRIGR), Immunology, MUMC+: MA Nefrologie (9), Interne Geneeskunde, RS: Carim - B02 Vascular aspects thrombosis and Haemostasis

المصدر: Journal of Allergy and Clinical Immunology, 149, 1, pp. 432-439
Journal of Allergy and Clinical Immunology, 149, 432-439
Journal of Allergy and Clinical Immunology, 149(1), 432-439.e4. MOSBY-ELSEVIER
Journal of Allergy and Clinical Immunology, 149(1), 432-439.e4. Mosby Inc.

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Myeloid, somatic variants, Interstitial nephritis, Immunology, Perforation (oil well), lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Ubiquitin-Activating Enzymes, MOSAICISM, 03 medical and health sciences, chemistry.chemical_compound, Cancer development and immune defence Radboud Institute for Health Sciences [Radboudumc 2], 0302 clinical medicine, Tocilizumab, All institutes and research themes of the Radboud University Medical Center, Internal medicine, medicine, Humans, VEXAS, Immunology and Allergy, Age of Onset, Aged, Netherlands, Retrospective Studies, UBA1, 030203 arthritis & rheumatology, IMMUNODEFICIENCY, Cytopenia, IDENTIFICATION, business.industry, Hereditary Autoinflammatory Diseases, Skin Diseases, Genetic, Middle Aged, autoinflammation, medicine.disease, Transplantation, 030104 developmental biology, medicine.anatomical_structure, chemistry, Myelodysplastic Syndromes, Mutation, Differential diagnosis, Renal disorders Radboud Institute for Health Sciences [Radboudumc 11], business, Vasculitis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e1545a39943a56b7d8eb1c62781215Test
https://repository.ubn.ru.nl/handle/2066/246773Test