المؤلفون: Liz, van de Riet, Anna M., Aris, Nick W., Verouden, Lectoraat Creative Media for Social Change, Tibor, van Rooij, Job, B.M. van Woensel, Clara D., van Karnebeek, Mattijs, W. Alsem, Lectoraat Creative Media for Social Change

المصدر: PEC Innovation. 4

URL الوصول: https://pure.hva.nl/ws/files/50543592/1-s2.0-S2772628224000281-main.pdf
https://research.hva.nl/en/publications/2b2c5fed-c936-41e2-8c15-b7200ec01eac

الاتاحة: http://www.hbo-kennisbank.nl/en/page/hborecord.view/?uploadId=amsterdam_pure:oai:pure.hva.nl:publications/2b2c5fed-c936-41e2-8c15-b7200ec01eac

المؤلفون: Nadia Y. van Silfhout, Maud M. van Muilekom, Clara D. van Karnebeek, Lotte Haverman, Agnies M. van Eeghen

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Rare genetic neurodevelopmental disorders, Intellectual disability, Patient reported outcomes, Patient reported outcome measures, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/867cad4038a642219531ff65d47c129a

المؤلفون: Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, Frédéric M. Vaz, Marion M. Brands, Hoang Lan Le, Agnies M. van Eeghen, Peter M. van de Ven, Martina C. Cornel, Bart A.W. Jacobs, Hilgo Bruining, Clara D. van Karnebeek

المصدر: Contemporary Clinical Trials Communications, Vol 38, Iss , Pp 101264- (2024)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451865424000115; https://doaj.org/toc/2451-8654

URL الوصول: https://doaj.org/article/c600e47e64454d01835063d2a4f79093

المؤلفون: Bibiche den Hollander, Marieke Rothuizen-Lindenschot, Lisa Geertjens, Frédéric M. Vaz, Marion M. Brands, Hoang Lan Le, Agnies M. van Eeghen, Peter M. van de Ven, Martina C. Cornel, Bart A.W. Jacobs, Hilgo Bruining, Clara D. van Karnebeek

المصدر: Contemporary Clinical Trials Communications, Vol 36, Iss , Pp 101233- (2023)

مصطلحات موضوعية: GRIN2B1, L-serine2, Intellectual developmental disability3, N-methyl-D-aspartate receptor4, Personalized medicine5, n-of-16, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451865423001795; https://doaj.org/toc/2451-8654

URL الوصول: https://doaj.org/article/adbda0d94cdd40879d421b91290d512c

المؤلفون: Liz van de Riet, MD, Marieke H. Otten, MD, PhD, Clara D. van Karnebeek, MD, PhD, Job B. M. van Woensel, MD, PhD, on behalf of the PICE study group, Casper W. Bollen, Jeroen R. ter Horst, Richard H. Klein, Jan Willem Kuiper, Maaike A Riedijk, Carin W.M. Verlaat, Dick A van Waardenburg

المصدر: Critical Care Explorations, Vol 4, Iss 12, p e0798 (2022)

مصطلحات موضوعية: Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9

وصف الملف: electronic resource

Relation: http://journals.lww.com/10.1097/CCE.0000000000000798; https://doaj.org/toc/2639-8028

URL الوصول: https://doaj.org/article/ab56b1e82bb946249e085b4bd72678aa

المؤلفون: Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Phenylketonuria, Phenylalanine, Late-diagnosed, Untreated, Brain vulnerability, Intellectual disability, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0890-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/fa8d0419b00e4e5aaeec6593e5894762

المؤلفون: Fátima Lopes, Fátima Torres, Gabriela Soares, Clara D. van Karnebeek, Cecília Martins, Diana Antunes, João Silva, Lauren Muttucomaroe, Luís Filipe Botelho, Susana Sousa, Paula Rendeiro, Purificação Tavares, Hilde Van Esch, Evica Rajcan-Separovic, Patrícia Maciel

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: 1q43-q44 CNVs, AKT3, microcephaly, macrocephaly, ZBTB18, SDCCAG8, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00058/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/ef0d68c278b0451791bc867d815c5db9

المؤلفون: Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Kari Casas, Bozena Didycz, Maja Djordjevic, Jozef L. Hertecant, Vincenzo Leuzzi, Per Mathisen, Francesca Nardecchia, Kimberly K. Powell, Frank Rutsch, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen

المصدر: Nutrients; Volume 11; Issue 11; Pages: 2572

مصطلحات موضوعية: phenylketonuria, late-treated, untreated, outcome, brain vulnerability, inter-individual differences

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: https://dx.doi.org/10.3390/nu11112572

الاتاحة: https://doi.org/10.3390/nu11112572

المؤلفون: Graham B. Sinclair PhD, FCCMG, Manuel Ester, Gabriella Horvath MD, PhD, FRCPC, FCCMG, Clara D. van Karnebeek MD, PhD, FRCPC, FCCMG, Sylvia Stockler-Ipsirogu MD, FRCPC, Hilary Vallance MD, FCCMG

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/a70005a921aa4b2b8c8a16bc3efd1d3c

المؤلفون: Agnies M, van Eeghen, Hilgo, Bruining, Nicole I, Wolf, Arthur A, Bergen, Riekelt H, Houtkooper, Mieke M, van Haelst, Clara D, van Karnebeek

المصدر: Cold Spring Harbor molecular case studies. 8(2)

مصطلحات موضوعية: Translational Research, Biomedical, Rare Diseases, Humans, Genomics, Precision Medicine, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6917708d7e7694a545028059bdb7bb94
https://pubmed.ncbi.nlm.nih.gov/35332073

المؤلفون: Dulika Sumathipala, Petter Strømme, Zohreh Fattahi, Torben Lüders, Ying Sheng, Kimia Kahrizi, Ingunn Holm Einarsen, Jennifer L Sloan, Hossein Najmabadi, Lambert van den Heuvel, Ron A Wevers, Sergio Guerrero-Castillo, Lars Mørkrid, Vassili Valayannopoulos, Paul Hoff Backe, Charles P Venditti, Clara D van Karnebeek, Hilde Nilsen, Eirik Frengen, Doriana Misceo

المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Paediatrics, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Brain, 145, 7, pp. 2602-2616
Brain, 145(7), 2602-2616. Oxford University Press
Brain, 145, 2602-2616

مصطلحات موضوعية: Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], chromatin immunoprecipitation (ChIP)-sequencing, malonic aciduria, RNA-sequencing, Brain, Humans, methylmalonic aciduria, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Neurology (clinical), ZBTB11, Nervous System Malformations, Amino Acid Metabolism, Inborn Errors, Metabolism, Inborn Errors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acbedb4cd7bdb802bcd7b638b2735663
https://pubmed.ncbi.nlm.nih.gov/35104841

المؤلفون: Clara D, van Karnebeek, Ingrid, Blydt-Hansen, Allison M, Matthews, Vladimir, Avramovic, Magda, Price, Britt, Drogemoller, Casper, Shyr, Jessica, Lee, Jill, Mwenifumbo, Aisha, Ghani, Sylvia, Stockler, Jan M, Friedman, Anna, Lehman, Colin J, Ross, Wyeth W, Wasserman, Maja, Tarailo-Graovac, Gabriella A, Horvath

المصدر: Neurogenetics. 22(4)

مصطلحات موضوعية: Adult, Male, Biogenic Amines, Neurotransmitter Agents, Adolescent, Carbidopa, Kinesins, Levodopa, Drug Combinations, Young Adult, p21-Activated Kinases, Child, Preschool, Humans, Female, Child

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::58278905f8859889c2f3f25aae31d585
https://pubmed.ncbi.nlm.nih.gov/34213677