المؤلفون: Juliette C. van Hattum, MD, Sjoerd M. Verwijs, BSc, P. Jeff Senden, MD, PhD, Jessica L. Spies, BSc, S. Matthijs Boekholdt, MD, PhD, Maarten Groenink, MD, PhD, Nicole M. Panhuyzen-Goedkoop, MD, Albert R. Willems, MD, PhD, Ingmar Knobbe, MD, Nicolaas A. Blom, MD, PhD, Cornelis A.C.M. Wijne, MD, Gustaaf Reurink, MD, PhD, Saskia N. van der Crabben, MD, PhD, Nick R. Bijsterveld, MD, PhD, Evert A.L.M. Verhagen, MD, PhD, Yigal M. Pinto, MD, PhD, Arthur A.M. Wilde, MD, PhD, Harald T. Jørstad, MD, PhD

المصدر: Mayo Clinic Proceedings: Innovations, Quality & Outcomes, Vol 6, Iss 6, Pp 525-535 (2022)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2542454822000595Test; https://doaj.org/toc/2542-4548Test

الوصول الحر: https://doaj.org/article/605f6c679a2e4a0ba6dce258fa02fec9Test

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

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2023.1206106/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/c44c3636bfe843e397324a3fa470aac2Test

المؤلفون: Mark Jansen, Maike Schuldt, Beau O. van Driel, Amand F. Schmidt, Imke Christiaans, Saskia N. van der Crabben, Yvonne M. Hoedemaekers, Dennis Dooijes, Jan D. H. Jongbloed, Ludolf G. Boven, Ronald H. Lekanne Deprez, Arthur A. M. Wilde, Judith J. M. Jans, Jolanda van der Velden, Rudolf A. de Boer, J. Peter van Tintelen, Folkert W. Asselbergs, Annette F. Baas

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 4, p 4031 (2023)

مصطلحات موضوعية: hypertrophic cardiomyopathy, MYBPC3, biomarkers, metabolomics, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/4/4031Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/e223c94791014e57a9ae7b833ca8be81Test

المؤلفون: Brigitte W. M. Willemse, Saskia N. van der Crabben, Wilhelmina S. Kerstjens-Frederikse, Wim Timens, Joris M. van Montfrans, Caroline A. Lindemans, Jaap Jan Boelens, Marije P. Hennus, Gijs van Haaften

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)

مصطلحات موضوعية: NSMCE3 gene, Severe respiratory failure, Immunodeficiency, Pediatric acute respiratory distress syndrome (PARDS), Hematopoietic stem-cell transplantation, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/8166af30d2064f568de6a325ebb2fea6Test

المؤلفون: Bhavi P. Modi, Haq Nawaz Khan, Robin van der Lee, Muhammad Wasim, Charlotte A. Haaxma, Phillip A. Richmond, Britt Drögemöller, Suleman Shah, Gajja Salomons, Frans M. van der Kloet, Fred M. Vaz, Saskia N. van der Crabben, Colin J. Ross, Wyeth W. Wasserman, Clara D.M. van Karnebeek, Fazli Rabbi Awan

المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100761- (2021)

مصطلحات موضوعية: Guanidinoacetate methyltransferase deficiency, GAMT, Adult cases, Progressive intellectual and neurological deterioration, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426921000550Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/0324e8d839f242b9b20895a59c5f16a5Test

المؤلفون: Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen J. Duran, Sanne M. C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L. van Gassen, Mirjam van Aalderen, Bart G. Koot, Marlies Oostendorp, Marinus Duran, Gepke Visser, Tom J. de Koning, Francesco Calì, Paolo Bosco, Karin Geleijns, Monique G. M. de Sain-van der Velden, Nine V. Knoers, Jeroen Bakkers, Nanda M. Verhoeven-Duif, Gijs van Haaften, Judith J. Jans

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2041-1723Test

الوصول الحر: https://doaj.org/article/0dc2cc8f517f49eaa57ea85a84853e50Test

المؤلفون: Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp

المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

مصطلحات موضوعية: adrenoleukodystrophy, peroxisomes, newborn screening, neonatal, gender, heel prick, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2021.631655/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/054f31fb4bc844b1b2796b22e145115bTest

المؤلفون: Rinse W. Barendsen, Inge M. E. Dijkstra, Wouter F. Visser, Mariëlle Alders, Jet Bliek, Anita Boelen, Marelle J. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, Ankie G. M. van Gorp, Annemieke C. Heijboer, Mandy Jansen, Yorrick R. J. Jaspers, Henk van Lenthe, Ingrid Metgod, Christiaan F. Mooij, Elise H. C. van der Sluijs, A. S. Paul van Trotsenburg, Rendelien K. Verschoof-Puite, Frédéric M. Vaz, Hans R. Waterham, Frits A. Wijburg, Marc Engelen, Eugènie Dekkers, Stephan Kemp

المصدر: Frontiers in Cell and Developmental Biology, Vol 8 (2020)

مصطلحات موضوعية: adrenoleukodystrophy, peroxisomes, newborn screening, neonatal, gender, heel prick, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/article/10.3389/fcell.2020.00499/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/ef6ca06a8b4c424b8d5d42322daa9ee4Test

المؤلفون: Saskia N. van der Crabben, Stellan Mörner, Anna C. Lundström, Jenni Jonasson, Hennie Bikker, Ahmad S. Amin, Annika Rydberg, Arthur A. M. Wilde

المساهمون: Human Genetics, ACS - Amsterdam Cardiovascular Sciences, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Cardiology, ACS - Heart failure & arrhythmias, Human genetics

المصدر: van der Crabben, S N, Mörner, S, Lundström, A C, Jonasson, J, Bikker, H, Amin, A S, Rydberg, A & Wilde, A A M 2022, ' Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity? ', European Journal of Human Genetics, vol. 30, no. 11, pp. 1208-1210 . https://doi.org/10.1038/s41431-022-01173-zTest
European journal of human genetics, 30(11), 1208-1210. Nature Publishing Group
European Journal of Human Genetics, 30(11), 1208-1210. Nature Publishing Group

مصطلحات موضوعية: Virulence, Genetics, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fa4015b6489c8399c8d1ee3808e327bTest
https://doi.org/10.1038/s41431-022-01173-zTest

المؤلفون: Jaël S Copier, Marianne Bootsma, Chai A Ng, Arthur A M Wilde, Robin A Bertels, Hennie Bikker, Imke Christiaans, Saskia N van der Crabben, Janna A Hol, Tamara T Koopmann, Jeroen Knijnenburg, Aafke A J Lommerse, Jasper J van der Smagt, Connie R Bezzina, Jamie I Vandenberg, Arie O Verkerk, Daniela Q C M Barge-Schaapveld, Elisabeth M Lodder

المساهمون: Human genetics, Amsterdam Cardiovascular Sciences, Experimental Cardiology, Graduate School, ACS - Heart failure & arrhythmias, Cardiology, Paediatric Cardiology, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, ACS - Amsterdam Cardiovascular Sciences, Medical Biology

المصدر: Human Molecular Genetics, 32(7), 1072-1082. Oxford University Press
Human molecular genetics, 32(7), 1072-1082. Oxford University Press
Copier, J S, Bootsma, M, Ng, C A, Wilde, A A M, Bertels, R A, Bikker, H, Christiaans, I, van der Crabben, S N, Hol, J A, Koopmann, T T, Knijnenburg, J, Lommerse, A A J, van der Smagt, J J, Bezzina, C R, Vandenberg, J I, Verkerk, A O, Barge-Schaapveld, D Q C M & Lodder, E M 2023, ' Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance ', Human Molecular Genetics, vol. 32, no. 7, pp. 1072-1082 . https://doi.org/10.1093/hmg/ddac261Test

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::519654e8bc20f7975db9d699d619b260Test
https://research.vumc.nl/en/publications/9b00c3f8-9873-42ac-bfb9-46f0292eee55Test