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1دورية أكاديمية
المؤلفون: Lonneke Haer-Wigman, Amber den Ouden, Maria M. van Genderen, Hester Y. Kroes, Joke Verheij, Dzenita Smailhodzic, Attje S. Hoekstra, Raymon Vijzelaar, Jan Blom, Ronny Derks, Menno Tjon-Pon-Fong, Helger G. Yntema, Marcel R. Nelen, Lisenka E.L.M. Vissers, Dorien Lugtenberg, Kornelia Neveling
المصدر: npj Genomic Medicine, Vol 7, Iss 1, Pp 1-10 (2022)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2056-7944
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2دورية أكاديمية
المؤلفون: Abigail Veldman, Mensiena B. G. Kiewiet, Margaretha Rebecca Heiner-Fokkema, Marcel R. Nelen, Richard J. Sinke, Birgit Sikkema-Raddatz, Els Voorhoeve, Dineke Westra, Martijn E. T. Dollé, Peter C. J. I. Schielen, Francjan J. van Spronsen
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 1, p 17 (2022)
مصطلحات موضوعية: next-generation sequencing, first-tier, heel prick, dried blood spot, inherited metabolic disorders, inborn errors of metabolism, Pediatrics, RJ1-570
وصف الملف: electronic resource
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المؤلفون: Frédéric M. Vaz, Youssra Jamal, Rob Barto, Michael H. Gelb, Andrea E. DeBarber, Ron A. Wevers, Marcel R. Nelen, Aad Verrips, Albert H. Bootsma, Marelle J. Bouva, Nick Kleise, Walter van der Zee, Tao He, Gajja S. Salomons, Hidde H. Huidekoper
المساهمون: Laboratory Genetic Metabolic Diseases, APH - Methodology, APH - Personalized Medicine, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory for General Clinical Chemistry, Graduate School, Amsterdam institute for Infection and Immunity, Amsterdam Cardiovascular Sciences, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience, Genetic Metabolic Diseases, Amsterdam Reproduction & Development (AR&D), Pediatrics
المصدر: Vaz, F M, Jamal, Y, Barto, R, Gelb, M H, DeBarber, A E, Wevers, R A, Nelen, M R, Verrips, A, Bootsma, A H, Bouva, M J, Kleise, N, van der Zee, W, He, T, Salomons, G S & Huidekoper, H H 2023, ' Newborn screening for Cerebrotendinous Xanthomatosis : A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns ', Clinica Chimica Acta, vol. 539, pp. 170-174 . https://doi.org/10.1016/j.cca.2022.12.011
Clinica chimica acta; international journal of clinical chemistry, 539, 170-174. Elsevier
Clinica Chimica Acta, 539, 170-174. Elsevierمصطلحات موضوعية: Newborn screening, Tandem mass spectrometry, Cerebrotendinous Xanthomatosis, Metabolite ratios, Biochemistry (medical), Clinical Biochemistry, General Medicine, Biochemistry
وصف الملف: application/pdf
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المؤلفون: Bart P. G. H. van der Sanden, Gaby Schobers, Jordi Corominas Galbany, David A. Koolen, Margje Sinnema, Jeroen van Reeuwijk, Connie T. R. M. Stumpel, Tjitske Kleefstra, Bert B. A. de Vries, Martina Ruiterkamp-Versteeg, Nico Leijsten, Michael Kwint, Ronny Derks, Hilde Swinkels, Amber den Ouden, Rolph Pfundt, Tuula Rinne, Nicole de Leeuw, Alexander P. Stegmann, Servi J. Stevens, Arthur van den Wijngaard, Han G. Brunner, Helger G. Yntema, Christian Gilissen, Marcel R. Nelen, Lisenka E. L. M. Vissers
المساهمون: MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, Klinische Genetica, MUMC+: DA KG Lab Specialisten (9), MUMC+: DA Klinische Genetica (5)
المصدر: European Journal of Human Genetics, 31, 1, pp. 81-88
European Journal of Human Genetics, 31(1), 81-88. Nature Publishing Group
European Journal of Human Genetics, 31, 81-88مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Other Research Radboud Institute for Health Sciences [Radboudumc 0], Genetics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Correlated Electron Systems / High Field Magnet Laboratory (HFML), Genetics (clinical), Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
وصف الملف: application/pdf
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المؤلفون: Taco W. Kuijpers, Andrica C. H. de Vries, Ester M. van Leeuwen, A.(Ton) A. M. Ermens, Saskia de Pont, Desirée E. C. Smith, Mirjam M. C. Wamelink, Arjen R. Mensenkamp, Marcel R. Nelen, Hana Lango Allen, Steven T. Pals, Berna H. B. Beverloo, Hidde H. Huidekoper, Anja Wagner
المساهمون: Pediatrics, Clinical chemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Clinical Genetics, Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development, Experimental Immunology, CCA - Cancer biology and immunology, Laboratory Genetic Metabolic Diseases, Pathology, 09 Laboratory specialisms
المصدر: Blood, 6(22), 5829-5834. American Society of Hematology
NIHR BioResource Study Group 2022, ' Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene ', Blood, vol. 6, no. 22, pp. 5829-5834 . https://doi.org/10.1182/bloodadvances.2022007233
Blood advances, 6(22), 5829-5834. American Society of Hematology
Blood Advances, 6, 22, pp. 5829-5834
Blood Advances, 6, 5829-5834مصطلحات موضوعية: Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Leukemia, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Homozygote, Mutation, Humans, Anemia, Hematology
وصف الملف: application/pdf
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المؤلفون: Erdi Kucuk, Shreyasee Chakraborty, Marcel R. Nelen, Han G. Brunner, Lisenka E.L.M. Vissers, Primo Baybayan, Michael Kwint, Bart van der Sanden, Alexander Hoischen, Ronny Derks, Marc Pauper, Aaron M. Wenger, Christian Gilissen
المساهمون: MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: GROW - R4 - Reproductive and Perinatal Medicine
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 29(4), 637-648. Nature Publishing Group
European Journal of Human Genetics, 29, 637-648
European Journal of Human Genetics, 29, 4, pp. 637-648مصطلحات موضوعية: Proband, Concordance, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], DE-NOVO, Biology, VARIANTS, Genome, Article, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Genetics, Coding region, HUMAN GENOME, DNA sequencing, Gene, Genetics (clinical), Exome sequencing, 030304 developmental biology, UTILITY, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Other Research Radboud Institute for Health Sciences [Radboudumc 0], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], DISCOVERY, Mendelian inheritance, symbols, Structural variation, 030217 neurology & neurosurgery, Reference genome
وصف الملف: application/pdf
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المؤلفون: Suzanne E. de Bruijn, Kim Rodenburg, Jordi Corominas, Tamar Ben-Yosef, Janine Reurink, Hannie Kremer, Laura Whelan, Astrid S. Plomp, Wolfgang Berger, G. Jane Farrar, Árpád Ferenc Kovács, Isabelle Fajardy, Rebekkah J. Hitti-Malin, Nicole Weisschuh, Marianna E. Weener, Dror Sharon, Ronald J.E. Pennings, Lonneke Haer-Wigman, Carel B. Hoyng, Marcel R. Nelen, Lisenka E.L.M. Vissers, L. Ingeborgh van den Born, Christian Gilissen, Frans P.M. Cremers, Alexander Hoischen, Kornelia Neveling, Susanne Roosing
المساهمون: Human Genetics, Human genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Genetics in medicine. Lippincott Williams and Wilkins
Genetics in Medicine, 25, 3
Genetics in Medicine. Lippincott Williams and Wilkins
de Bruijn, S E, Rodenburg, K, Corominas, J, Ben-Yosef, T, Reurink, J, Kremer, H, Whelan, L, Plomp, A S, Berger, W, Farrar, G J, Ferenc Kovács, Á, Fajardy, I, Hitti-Malin, R J, Weisschuh, N, Weener, M E, Sharon, D, Pennings, R J E, Haer-Wigman, L, Hoyng, C B, Nelen, M R, Vissers, L E L M, van den Born, L I, Gilissen, C, Cremers, F P M, Hoischen, A, Neveling, K & Roosing, S 2022, ' Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes ', Genetics in Medicine . https://doi.org/10.1016/j.gim.2022.11.013
Genetics in Medicine, 25
Genetics in Medicine, 25 (3)مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Inherited retinal diseases, Optical genome mapping, Next-generation sequencing, Short-read genome sequencing, Structural variants, Other Research Radboud Institute for Health Sciences [Radboudumc 0], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Genetics (clinical)
وصف الملف: application/pdf; application/application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2799d9614b7c6535f6ff4084263d2eb2
https://pure.amc.nl/en/publications/optical-genome-mapping-and-revisiting-shortread-genome-sequencing-data-reveal-previously-overlooked-structural-variants-disrupting-retinal-diseaseassociated-genes(b2b88fa0-a4a9-41a9-b28f-bcd99c6a5e7e).html -
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المؤلفون: Jordi Corominas, Sanne P. Smeekens, Marcel R. Nelen, Helger G. Yntema, Erik‐Jan Kamsteeg, Rolph Pfundt, Christian Gilissen
المصدر: Human Mutation, 43, 1041-1055
Human Mutation, 43, 8, pp. 1041-1055مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Exome Sequencing, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Genetics, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], High-Throughput Nucleotide Sequencing, Humans, Exome, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genetic Testing, Sequence Analysis, DNA, Genetics (clinical), Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
وصف الملف: application/pdf
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المؤلفون: Christian Gilissen, Rolph Pfundt, Sanne P. Smeekens, Marcel R. Nelen, Helger G Yntema, Erik-Jan Kamsteeg, Jordi Corominas Galbany
مصطلحات موضوعية: Workflow, Massive parallel sequencing, medicine.diagnostic_test, Computer science, Learning curve, Growing pains, medicine, medicine.disease, Data science, Exome sequencing, Genetic testing
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c36e9c58cf496884940b6475889ff8f1
https://doi.org/10.22541/au.162788790.01508133/v1 -
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المؤلفون: Aaron M. Wenger, Christian Gilissen, Erdi Kucuk, Shreyasee Chakraborty, Bart van der Sanden, Lisenka E.L.M. Vissers, Michael Kwint, Alexander Hoischen, Ronny Derks, Han G. Brunner, Primo Baybayan, Marc Pauper, Marcel R. Nelen
المصدر: Eur J Hum Genet
مصطلحات موضوعية: medicine.medical_specialty, Polymorphism, Genetic, Published Erratum, MEDLINE, Correction, Sequence Analysis, DNA, medicine.disease, Pedigree, Intellectual Disability, Intellectual disability, Mutation, Genetics, medicine, Humans, Genetic Testing, Psychology, Psychiatry, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::befc2461f9449931b1f271e0e186a760
https://europepmc.org/articles/PMC8115538/
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