نتائج البحث - "Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]"

المصدر: Journal of Inherited Metabolic Disease, 46, 2, pp. 313-325
Post, M A, De Wit, I, Zijlstra, F, Low, K J, Van Karnebeek, C, Lefeber, D & et, A 2023, ' MOGS-CDG : quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 313-325 . https://doi.org/10.1002/jimd.12588, https://doi.org/10.1002/jimd.12588
Journal of Inherited Metabolic Disease, 46, 313-325

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Genetics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4a64c83a950f9dae5040a71acac3150
https://hdl.handle.net/2066/290862

View record at Wiley

5

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies

المؤلفون: Maartje Pennings, Rowdy P. P. Meijer, Monique Gerrits, Jannie Janssen, Rolph Pfundt, Nicole de Leeuw, Christian Gilissen, Thatjana Gardeitchik, Meyke Schouten, Nicol Voermans, Bart van de Warrenburg, Erik-Jan Kamsteeg

المساهمون: MUMC+: DA KG Lab Specialisten (9), RS: FHML - MUMC+

المصدر: European Journal of Human Genetics, 31, 6, pp. 654-662
European Journal of Human Genetics. Nature Publishing Group
European Journal of Human Genetics, 31, 654-662

مصطلحات موضوعية: MICRODUPLICATION, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], DELETION, MEDICAL GENETICS, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], DE-NOVO, AMERICAN-COLLEGE, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], DUPLICATION, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], JOINT CONSENSUS RECOMMENDATION, INDIVIDUALS, All institutes and research themes of the Radboud University Medical Center, Genetics, GENOMICS, Genetics (clinical), STANDARDS

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02f31ede36885a44f2e2db895281d340
https://hdl.handle.net/2066/293778

Find this article in full text from ProQuest

6

Comprehensive de novo mutation discovery with HiFi long-read sequencing

المؤلفون: Erdi Kucuk, Bart P. G. H. van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E. L. M. Vissers, Alexander Hoischen, Christian Gilissen

المصدر: Genome Medicine, 15
Genome Medicine, 15, 1

مصطلحات موضوعية: Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], De novo mutations, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], FORMAT, HiFi reads, STRUCTURAL VARIATION, GENOME, All institutes and research themes of the Radboud University Medical Center, Genetics, Molecular Medicine, Long-read sequencing, Molecular Biology, Genetics (clinical)

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e70b37be5fee351bfbb5795d0437231
https://doi.org/10.1186/s13073-023-01183-6

Find this article in full text from ProQuest

7

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

المؤلفون: Marit Schwantje, Sabine A. Fuchs, Lonneke de Boer, Annet M. Bosch, Inge Cuppen, Eugenie Dekkers, Terry G. J. Derks, Sacha Ferdinandusse, Lodewijk Ijlst, Riekelt H. Houtkooper, Rose Maase, W. Ludo van der Pol, Maaike C. de Vries, Rendelien K. Verschoof‐Puite, Ronald J. A. Wanders, Monique Williams, Frits Wijburg, Gepke Visser

المساهمون: Pediatrics, Clinical chemistry, ACS - Diabetes & metabolism, Paediatric Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Laboratory Genetic Metabolic Diseases, ACS - Heart failure & arrhythmias, Laboratory for General Clinical Chemistry, Paediatrics, Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Schwantje, M, Fuchs, S A, de Boer, L, Bosch, A M, Cuppen, I, Dekkers, E, Derks, T G J, Ferdinandusse, S, Ijlst, L, Houtkooper, R H, Maase, R, van der Pol, W L, de Vries, M C, Verschoof-Puite, R K, Wanders, R J A, Williams, M, Wijburg, F & Visser, G 2022, ' Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands ', Journal of Inherited Metabolic Disease, vol. 45, no. 4, pp. 804-818 . https://doi.org/10.1002/jimd.12502
Journal of Inherited Metabolic Disease, 45(4), 804-818. Springer Netherlands
Journal of inherited metabolic disease, 45(4), 804-818. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(4), 804-818. SPRINGER
Journal of Inherited Metabolic Disease, 45, 804-818
Journal of Inherited Metabolic Disease, 45, 4, pp. 804-818

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eac31efe736b5ab73a20fdbf76edccd1
https://doi.org/10.1002/jimd.12502

View record at Wiley

8

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

المؤلفون: Laura A. Tseng, Jose E. Abdenur, Ashley Andrews, Verena G. Aziz, Levinus A. Bok, Monica Boyer, Daniela Buhas, Hans Hartmann, Emma J. Footitt, Sabine Grønborg, Mirian C.H. Janssen, Nicola Longo, Roelineke J. Lunsing, Alex E. MacKenzie, Frits A. Wijburg, Sidney M. Gospe, Curtis R. Coughlin, Clara D.M. van Karnebeek

المساهمون: Graduate School, Paediatrics, Paediatric Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, ANS - Compulsivity, Impulsivity & Attention, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development

المصدر: Molecular Genetics and Metabolism, 135, 350-356
Molecular Genetics and Metabolism, 135, 4, pp. 350-356
Molecular Genetics and Metabolism, 135(4), 350-356. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism, 135(4), 350-356. Academic Press Inc.