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1دورية أكاديمية
المؤلفون: Teunis J P van Dam, Julie Kennedy, Robin van der Lee, Erik de Vrieze, Kirsten A Wunderlich, Suzanne Rix, Gerard W Dougherty, Nils J Lambacher, Chunmei Li, Victor L Jensen, Michel R Leroux, Rim Hjeij, Nicola Horn, Yves Texier, Yasmin Wissinger, Jeroen van Reeuwijk, Gabrielle Wheway, Barbara Knapp, Jan F Scheel, Brunella Franco, Dorus A Mans, Erwin van Wijk, François Képès, Gisela G Slaats, Grischa Toedt, Hannie Kremer, Heymut Omran, Katarzyna Szymanska, Konstantinos Koutroumpas, Marius Ueffing, Thanh-Minh T Nguyen, Stef J F Letteboer, Machteld M Oud, Sylvia E C van Beersum, Miriam Schmidts, Philip L Beales, Qianhao Lu, Rachel H Giles, Radek Szklarczyk, Robert B Russell, Toby J Gibson, Colin A Johnson, Oliver E Blacque, Uwe Wolfrum, Karsten Boldt, Ronald Roepman, Victor Hernandez-Hernandez, Martijn A Huynen
المصدر: PLoS ONE, Vol 14, Iss 5, p e0216705 (2019)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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2دورية أكاديمية
المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Łukasz Kuszel, Paulina Pietras, Marta Leśniczak-Staszak, Mirosław Andrusiewicz, Maciej R. Krawczyński, Anna Latos-Bieleńska, Marta Pawlak, Ryszard Grenda, Anna Materna-Kiryluk, Machteld M. Oud, Witold Szaflarski
المصدر: Frontiers in Molecular Biosciences, Vol 10 (2023)
مصطلحات موضوعية: cranioectodermal dysplasia, CED, ciliopathy, second-stage renal disease, hURECs, WDR35, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Elise A. Ferreira, Mark J. N. Buijs, Robin Wijngaard, Joost G. Daams, Mareen R. Datema, Marc Engelen, Clara D. M. van Karnebeek, Machteld M. Oud, Frédéric M. Vaz, Mirjam M. C. Wamelink, Saskia N. van der Crabben, Mirjam Langeveld
المصدر: Frontiers in Neurology, Vol 14 (2023)
مصطلحات موضوعية: inherited metabolic disorders (IMD), metabolic, genomics, adults, diagnostics, exome sequencing, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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المؤلفون: F. Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M. Oud, Elise A. Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T. Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I. Wolf, Peter J. Steinbach, Yan Huang, Barbara N. Pusey, Sandrine Passemard, Jonathan Levy, Séverine Drunat, Marie Vincent, Agnès Guet, Emanuele Agolini, Antonio Novelli, Maria Cristina Digilio, Jill A. Rosenfeld, Jennifer L. Murphy, James R. Lupski, Gilbert Vezina, Ellen F. Macnamara, David R. Adams, Maria T. Acosta, Cynthia J. Tifft, William A. Gahl, May Christine V. Malicdan
المصدر: Undiagnosed Diseases Network 2023, ' Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis ', American journal of human genetics, vol. 110, no. 4, pp. 663-680 . https://doi.org/10.1016/j.ajhg.2023.03.001
American Journal of Human Genetics, 110, 4, pp. 663-680
American Journal of Human Genetics, 110, 663-680مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53ebb038cfccf9dc91ccbedf3135671c
https://hdl.handle.net/2066/291882 -
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المؤلفون: Ronald van Beek, Dorien Lugtenberg, Cenna Doornbos, Machteld M. Oud, Ronald Roepman, Lisenka E.L.M. Vissers, Peter H.M. Klaren, Ernie M.H.F. Bongers
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 29, 1677-1689
European Journal of Human Genetics, 29, pp. 1677-1689مصطلحات موضوعية: Pathology, medicine.medical_specialty, Diseases, Biology, Immunofluorescence, Sensitivity and Specificity, Ciliopathies, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Article, Genetic Heterogeneity, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Intraflagellar transport, Ciliogenesis, Genetics research, Genetics, medicine, Humans, Cilia, Genetic Testing, Ciliary tip, Cells, Cultured, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetic counselling, medicine.diagnostic_test, Cilium, 030305 genetics & heredity, High-throughput screening, Translational research, Fibroblasts, medicine.disease, Phenotype, High-Throughput Screening Assays, Ciliopathy, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Organismal Animal Physiology, sense organs
وصف الملف: application/pdf
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المؤلفون: Joanna, Walczak-Sztulpa, Anna, Wawrocka, Cenna, Doornbos, Ronald, van Beek, Anna, Sowińska-Seidler, Aleksander, Jamsheer, Ewelina, Bukowska-Olech, Anna, Latos-Bieleńska, Ryszard, Grenda, Ernie M H F, Bongers, Miriam, Schmidts, Ewa, Obersztyn, Maciej R, Krawczyński, Machteld M, Oud
المصدر: Frontiers in genetics. 13
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::3e68082aacf038418306d3958dd84b6e
https://pubmed.ncbi.nlm.nih.gov/35873489 -
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المؤلفون: Joanna Walczak-Sztulpa, Anna Wawrocka, Cenna Doornbos, Ronald van Beek, Anna Sowińska-Seidler, Aleksander Jamsheer, Ewelina Bukowska-Olech, Anna Latos-Bieleńska, Ryszard Grenda, Ernie M. H. F. Bongers, Miriam Schmidts, Ewa Obersztyn, Maciej R. Krawczyński, Machteld M. Oud
المصدر: Frontiers in Genetics, 13
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Genetics, Molecular Medicine, Genetics (clinical)
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c00f78631c91ce69911c8864b8fe8dec
https://repository.ubn.ru.nl/handle/2066/253157 -
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المؤلفون: Saskia B. Wortmann, Machteld M. Oud, Mariëlle Alders, Karlien L. M. Coene, Saskia N. van der Crabben, René G. Feichtinger, Alejandro Garanto, Alex Hoischen, Mirjam Langeveld, Dirk Lefeber, Johannes A. Mayr, Charlotte W. Ockeloen, Holger Prokisch, Richard Rodenburg, Hans R. Waterham, Ron A. Wevers, Bart P. C. van de Warrenburg, Michel A. A. P. Willemsen, Nicole I. Wolf, Lisenka E. L. M. Vissers, Clara D. M. van Karnebeek
المصدر: Journal of Inherited Metabolic Disease, 45, 663-681
Wortmann, S B, Oud, M M, Alders, M, Coene, K L M, van der Crabben, S N, Feichtinger, R G, Garanto, A, Hoischen, A, Langeveld, M, Lefeber, D, Mayr, J A, Ockeloen, C W, Prokisch, H, Rodenburg, R, Waterham, H R, Wevers, R A, van de Warrenburg, B P C, Willemsen, M A A P, Wolf, N I, Vissers, L E L M & van Karnebeek, C D M 2022, ' How to proceed after “negative” exome : A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 663-681 . https://doi.org/10.1002/jimd.12507
Journal of Inherited Metabolic Disease, 45, 4, pp. 663-681مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], treatment, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], DNA, Mitochondrial, genome sequencing, Phenotype, diagnostic yield, Genetics, Exome, Genetic Testing, exome-negative, inborn metabolic disease, exome sequencing, Genetics (clinical)
وصف الملف: application/pdf
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المؤلفون: Ewelina Bukowska-Olech, Aleksander Jamsheer, Machteld M. Oud, Anna Wasilewska, Heleen H. Arts, Anna Wawrocka, Anna Latos-Bielenska, Joanna Walczak-Sztulpa, Renata Posmyk, Miriam Schmidts
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseases, 15
Orphanet Journal of Rare Diseases, 15, 1
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Male, Sensenbrenner syndrome, Ciliopathy, lcsh:Medicine, Gene mutation, Compound heterozygosity, Bioinformatics, Bone and Bones, End stage renal disease, Cranioectodermal dysplasia, Craniosynostoses, 03 medical and health sciences, End-stage renal disease, All institutes and research themes of the Radboud University Medical Center, Ectodermal Dysplasia, IFT140, medicine, Humans, Pharmacology (medical), Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, business.industry, Genetic heterogeneity, Research, 030305 genetics & heredity, lcsh:R, General Medicine, medicine.disease, Cilium assembly, 3. Good health, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], Child, Preschool, Mutation, Kidney Failure, Chronic, Poland, Carrier Proteins, business, Cranioectodermal Dysplasia
وصف الملف: application/pdf
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المؤلفون: Bibiche den Hollander, Anne Rasing, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Dirk J. Lefeber, Clara D. M. van Karnebeek
المساهمون: Paediatric Metabolic Diseases, APH - Personalized Medicine
المصدر: den Hollander, B, Rasing, A, Post, M A, Klein, W M, Oud, M M, Brands, M M, de Boer, L, Engelke, U F H, van Essen, P, Fuchs, S A, Haaxma, C A, Jensson, B O, Kluijtmans, L A J, Lengyel, A, Lichtenbelt, K D, Østergaard, E, Peters, G, Salvarinova, R, Simon, M E H, Stefansson, K, Thorarensen, Ó, Ulmen, U, Coene, K L M, Willemsen, M A, Lefeber, D J & Karnebeek, C D M V 2021, ' NANS-CDG : Delineation of the Genetic, Biochemical, and Clinical Spectrum ', Frontiers in Neurology, vol. 12, 668640 . https://doi.org/10.3389/fneur.2021.668640
Frontiers in Neurology, 12
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in neurology, 12:668640. Frontiers Media S.A.مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, glycosylation, Genetic counseling, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], thrombocytopenia, skeletal dysplasia, Compound heterozygosity, Gastroenterology, Short stature, 03 medical and health sciences, Epilepsy, congenital disorder of glycosylation, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Internal medicine, medicine, RC346-429, N-acetyl-D-neuraminic acid, Original Research, Cerebral atrophy, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], business.industry, Other Research Radboud Institute for Health Sciences [Radboudumc 0], intellectual developmental disorder/IDD, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, metabolic disease, Developmental disorder, 030104 developmental biology, Neurology, Dysplasia, sialic acid biosynthesis, Neurology. Diseases of the nervous system, Neurology (clinical), medicine.symptom, business, Congenital disorder of glycosylation, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43c25ea99a3697185811c0f8e3e2464
https://curis.ku.dk/portal/da/publications/nanscdg(71448156-5842-4473-8ce5-582da2117811).html