المؤلفون: Niskanen, JE, Ohlsson, A, Ljungvall, I, Drogemuller, M, Ernst, RF, Dooijes, D, van Deutekom, HWM, van Tintelen, JP, Blok, CJBS, van Vugt, M, van Setten, J, Asselbergs, FW, Petric, AD, Salonen, M, Hundi, S, Hortenhuber, M, Kere, J, Pyle, WG, Donner, J, Postma, AV, Leeb, T, Andersson, G, Hytonen, MK, Haggstrom, J, Wiberg, M, Friederich, J, Eberhard, J, Harakalova, M, van Steenbeek, FG, Wess, G, Lohi, H

المصدر: Genome medicine. 15(1):73

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:153708458

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المؤلفون: Erkens RGA; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Calis JJA; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Verwoerd A; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., De Roock S; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Ter Haar NM; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Den Engelsman G; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Van der Veken LT; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Ernst RF; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Van Deutekom HWM; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Pickering A; Harvard Medical School, Boston, Massachusetts., Scholman RC; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Jansen MHA; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Swart JF; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Sinha R; Systemic Juvenile Idiopathic Arthritis Foundation, Cincinnati, Ohio., Roth J; University of Münster, Münster, Germany., Schulert GS; Cincinnati Children's Hospital and University of Cincinnati College of Medicine, Cincinnati, Ohio., Grom AA; Cincinnati Children's Hospital and University of Cincinnati College of Medicine, Cincinnati, Ohio., Van Loosdregt J; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands., Vastert SJ; University Medical Center Utrecht and University of Utrecht, Utrecht, The Netherlands.

المصدر: Arthritis & rheumatology (Hoboken, N.J.) [Arthritis Rheumatol] 2024 Jan; Vol. 76 (1), pp. 119-129. Date of Electronic Publication: 2023 Nov 06.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101623795 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2326-5205 (Electronic) Linking ISSN: 23265191 NLM ISO Abbreviation: Arthritis Rheumatol Subsets: MEDLINE

مواضيع طبية MeSH: Arthritis, Juvenile*/drug therapy , Arthritis, Juvenile*/genetics , Biological Products*/therapeutic use , Eosinophilia*/drug therapy, Humans ; Interleukin 1 Receptor Antagonist Protein/genetics ; Interleukin 1 Receptor Antagonist Protein/therapeutic use ; HLA-DRB1 Chains/genetics ; Prospective Studies ; Receptors, Interleukin-1/therapeutic use

المؤلفون: van Deutekom HWM; Department of Genetics, UMC Utrecht, Utrecht University, Utrecht, the Netherlands., Haitjema S; Central Diagnostic Laboratory, UMC Utrecht, Utrecht University, Utrecht, the Netherlands.

المصدر: Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2022 May 11; Vol. 60 (7), pp. 982-988. Date of Electronic Publication: 2022 May 11 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 9806306 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1437-4331 (Electronic) Linking ISSN: 14346621 NLM ISO Abbreviation: Clin Chem Lab Med Subsets: MEDLINE

مواضيع طبية MeSH: Laboratories* , Software*, Documentation ; Humans ; Reference Standards ; Risk Management

المؤلفون: van der Velde KJ; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands.; University of Groningen and University Medical Center Groningen, Department of Genetics, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., Singh G; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Center for Molecular and Biomolecular Informatics, Geert Grooteplein 28, 6525 GA, Nijmegen, The Netherlands., Kaliyaperumal R; Leiden University Medical Center, Department of Human Genetics, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands., Liao X; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Center for Molecular and Biomolecular Informatics, Geert Grooteplein 28, 6525 GA, Nijmegen, The Netherlands., de Ridder S; Amsterdam University Medical Center, University of Amsterdam, Department of Pathology, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Rebers S; The Netherlands Cancer Institute, Division of Molecular Pathology, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands., Kerstens HHD; Prinses Máxima Center for Pediatric Oncology, Kemmeren group, Heidelberglaan 25, 3584 CS, Utrecht, The Netherlands., de Andrade F; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., van Reeuwijk J; Radboud University Medical Center, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands., De Gruyter FE; University Medical Center Utrecht, Department of Genetics, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Hiltemann S; Erasmus Medical Center, Department of Pathology, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., Ligtvoet M; Nictiz - Dutch competence centre for electronic exchange of health and care information, Oude Middenweg 55, 2491 AC, The Hague, The Netherlands., Weiss MM; Radboud University Medical Center, Department of Human Genetics, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands., van Deutekom HWM; University Medical Center Utrecht, Department of Genetics, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Jansen AML; University Medical Center Utrecht, Department of Pathology, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Stubbs AP; Erasmus Medical Center, Department of Pathology, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., Vissers LELM; Radboud University Medical Center, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands., Laros JFJ; Leiden University Medical Center, Department of Human Genetics, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.; Leiden University Medical Center, Department of Clinical Genetics, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.; Rijksinstituut voor Volksgezondheid en Milieu, Antonie van Leeuwenhoeklaan 9, 3721 MA, Bilthoven, The Netherlands., van Enckevort E; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., Stemkens D; VSOP - Patient Alliance for Rare and Genetic Diseases The Netherlands, Koninginnelaan 23, 3762 DA, Soest, The Netherlands., 't Hoen PAC; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Center for Molecular and Biomolecular Informatics, Geert Grooteplein 28, 6525 GA, Nijmegen, The Netherlands., Beliën JAM; Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Department of Pathology, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands., van Gijn ME; University of Groningen and University Medical Center Groningen, Department of Genetics, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., Swertz MA; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands. m.a.swertz@rug.nl.; University of Groningen and University Medical Center Groningen, Department of Genetics, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands. m.a.swertz@rug.nl.

المصدر: Scientific data [Sci Data] 2022 Apr 13; Vol. 9 (1), pp. 169. Date of Electronic Publication: 2022 Apr 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101640192 Publication Model: Electronic Cited Medium: Internet ISSN: 2052-4463 (Electronic) Linking ISSN: 20524463 NLM ISO Abbreviation: Sci Data Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing* , Metadata*, Delivery of Health Care ; Genomics ; Humans ; Software

المؤلفون: Bank PCD; Department of Pharmacy, Amsterdam University Medical Center, Amsterdam, The Netherlands., Jacobs LHJ; Department of Clinical Chemistry and Hematology, Meander Medical Centre, Amersfoort, The Netherlands., van den Berg SAA; Department of Clinical Chemistry, Erasmus Medical Centre, Rotterdam, The Netherlands., van Deutekom HWM; Department of Genetics, Section Genomic Diagnostics, University Medical Centre Utrecht, Utrecht, The Netherlands., Hamann D; Department of Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands., Molenkamp R; Department of Viroscience, Erasmus Medical Centre, Rotterdam, The Netherlands., Ruivenkamp CAL; Secretary Dutch Task Force IVDR, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Swen JJ; Department of Clinical Pharmacy & Toxicology, Leiden University Medical Center, Leiden, The Netherlands., Tops BBJ; Department of Pathology, Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands., Wamelink MMC; Department of Clinical Chemistry, Metabolic Unit, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Wessels E; Department of Medical Microbiology, Leiden University Medical Center, Leiden, The Netherlands., Oosterhuis WP; Department of Clinical Chemistry, Zuyderland Medical Centre, Heerlen, The Netherlands.

المصدر: Clinical chemistry and laboratory medicine [Clin Chem Lab Med] 2020 Nov 23. Date of Electronic Publication: 2020 Nov 23.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Walter De Gruyter Country of Publication: Germany NLM ID: 9806306 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1437-4331 (Electronic) Linking ISSN: 14346621 NLM ISO Abbreviation: Clin Chem Lab Med Subsets: MEDLINE

المؤلفون: Kerkhofs MHPM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands., Haijes HA; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands.; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands., Willemsen AM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands., van Gassen KLI; Section Genomic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands., van der Ham M; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands., Gerrits J; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands., de Sain-van der Velden MGM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands., Prinsen HCMT; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands., van Deutekom HWM; Section Genomic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands., van Hasselt PM; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands., Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands., Jans JJM; Section Metabolic Diagnostics, Department of Genetics, University Medical Centre Utrecht, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

المصدر: Metabolites [Metabolites] 2020 May 18; Vol. 10 (5). Date of Electronic Publication: 2020 May 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101578790 Publication Model: Electronic Cited Medium: Print ISSN: 2218-1989 (Print) Linking ISSN: 22181989 NLM ISO Abbreviation: Metabolites Subsets: PubMed not MEDLINE

المؤلفون: van Deutekom HWM; GenDx, Yalelaan 48, 3584CM Utrecht, the Netherlands., Mulder W; GenDx, Yalelaan 48, 3584CM Utrecht, the Netherlands., Rozemuller EH; GenDx, Yalelaan 48, 3584CM Utrecht, the Netherlands. Electronic address: e.rozemuller@GenDx.com.

المصدر: Human immunology [Hum Immunol] 2019 Jul; Vol. 80 (7), pp. 461-464. Date of Electronic Publication: 2019 Mar 26.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier/North-Holland Country of Publication: United States NLM ID: 8010936 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1166 (Electronic) Linking ISSN: 01988859 NLM ISO Abbreviation: Hum Immunol Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing/*methods , Histocompatibility Testing/*methods , Microsatellite Repeats/*genetics , Sequence Analysis, DNA/*methods, Alleles ; Base Sequence ; Data Accuracy ; Exons/genetics ; HLA-DRB1 Chains/genetics ; HLA-DRB5 Chains/genetics ; Humans ; Introns/genetics ; Polymerase Chain Reaction