نتائج البحث - "Nils Peeters"

المصدر: European Journal of Human Genetics, 27, 1044-1053
Eur J Hum Genet
European journal of human genetics
European Journal of Human Genetics, 27, 7, pp. 1044-1053

مصطلحات موضوعية: Male, Aortic valve, Smad6 Protein, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Heart Valve Diseases, Bone Morphogenetic Protein 2, 030204 cardiovascular system & hematology, Aortic aneurysm, 0302 clinical medicine, Bicuspid aortic valve, Bicuspid Aortic Valve Disease, Medicine, Thoracic aorta, Genetics (clinical), 0303 health sciences, Middle Aged, Penetrance, 3. Good health, Chemistry, medicine.anatomical_structure, Aortic Valve, Cardiology, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, Coarctation of the aorta, Thoracic aortic aneurysm, complex mixtures, Article, Craniosynostoses, 03 medical and health sciences, medicine.artery, Internal medicine, parasitic diseases, Genetics, Humans, Expressivity (genetics), Biology, Aged, 030304 developmental biology, Aortic Aneurysm, Thoracic, business.industry, Genetic Variation, medicine.disease, digestive system diseases, Aortic Dissection, Human medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dafb9045f35f53fec9dfe48f4ffe1e1
https://doi.org/10.1038/s41431-019-0363-z

Find this article in full text from Springer Verlag.

Find this article in full text from ProQuest

6

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children

المؤلفون: Guy Van Camp, An Boudewyns, Manou Sommen, Paul Van de Heyning, Nils Peeters, Jenneke van den Ende, Wim Wuyts

المصدر: Otology and neurotology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd6d7578a767ece9a847ac363990845
https://doi.org/10.1097/mao.0000000000001847

7

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

المؤلفون: Alice Krebsová, Aline Verstraeten, Steven Laga, Tom R. Webb, Melanie Perik, Josephina A.N. Meester, Milan Macek, Pavel Votypka, Dave Adlam, Birgitte Rode Diness, Bart Loeys, Ilse Van Gucht, Lotte Van Den Heuvel, Nils Peeters, Ania A Baranowska, Nilesh J. Samani, Lut Van Laer, Ilse Luyckx, Marlies Kempers

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, 22
Volume 22
Issue 13
International Journal of Molecular Sciences, Vol 22, Iss 7111, p 7111 (2021)
International journal of molecular sciences
International Journal of Molecular Sciences, 22, 13
Van Gucht, I, Krebsova, A, Diness, B R, Laga, S, Adlam, D, Kempers, M, Samani, N J, Webb, T R, Baranowska, A A, Van Den Heuvel, L, Perik, M, Luyckx, I, Peeters, N, Votypka, P, Macek, M, Meester, J, Van Laer, L, Verstraeten, A & Loeys, B L 2021, ' Novel lox variants in five families with aortic/arterial aneurysm and dissection with variable connective tissue findings ', International Journal of Molecular Sciences, vol. 22, no. 13, 7111 . https://doi.org/10.3390/ijms22137111

مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pathology, 030204 cardiovascular system & hematology, Protein-Lysine 6-Oxidase, Extracellular matrix, 0302 clinical medicine, Medicine, Missense mutation, Biology (General), Connective Tissue Diseases, Aorta, Spectroscopy, TAAD, integumentary system, LOX, Arterial aneurysm, Arteries, General Medicine, Middle Aged, Pedigree, 3. Good health, Computer Science Applications, Chemistry, medicine.anatomical_structure, Connective Tissue, Female, Adult, medicine.medical_specialty, QH301-705.5, Connective tissue, Lysyl oxidase, Dissection (medical), Thoracic aortic aneurysm, Article, Catalysis, Inorganic Chemistry, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, MFS, LDS, Humans, Genetic Predisposition to Disease, Physical and Theoretical Chemistry, Biology, QD1-999, Molecular Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], ECM, Aortic Aneurysm, Thoracic, business.industry, Organic Chemistry, medicine.disease, Aortic Dissection, 030104 developmental biology, Mutation, Human medicine, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c64d7c51e178bba4488ffdca36bb42bd
https://doi.org/10.3390/ijms22137111

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8

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection : further delineation of the phenotype

المؤلفون: Janneke Timmermans, Dimitra Micha, Sébastien Chénier, Thatjana Gardeitchik, Elyssa Cannaerts, Bart Loeys, Nils Peeters, Aline Verstraeten, Julie Richer, Paul Vermeersch, Gerarda van de Beek, Alessandra Maugeri, Carlo Marcelis, Dorien Schepers, Maaike Alaerts, Lut Van Laer, Marlies Kempers, Nathalie Meyten, Luc M. Beauchesne

المساهمون: Medical Genetics, Clinical sciences, Cardiology, Human genetics, ACS - Atherosclerosis & ischemic syndromes, Amsterdam Movement Sciences - Restoration and Development, ACS - Microcirculation

المصدر: Journal of medical genetics
Cannaerts, E, Kempers, M, Maugeri, A, Marcelis, C, Gardeitchik, T, Richer, J, Micha, D, Beauchesne, L, Timmermans, J, Vermeersch, P, Meyten, N, Chénier, S B, van de Beek, G, Peeters, N, Alaerts, M, Schepers, D, van Laer, L, Verstraeten, A & Loeys, B 2019, ' Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: Further delineation of the phenotype ', Journal of Medical Genetics, vol. 56, no. 4, pp. 220-227 . https://doi.org/10.1136/jmedgenet-2018-105304
Journal of Medical Genetics, 56, 4, pp. 220-227
Journal of Medical Genetics, 56(4), 220-227. BMJ Publishing Group
Journal of Medical Genetics, 56, 220-227

مصطلحات موضوعية: 0301 basic medicine, Marfan syndrome, Pathology, medicine.medical_specialty, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Connective tissue, Dissection (medical), 030105 genetics & heredity, Loeys–Dietz syndrome, SMAD2, 03 medical and health sciences, Genetics, Medicine, Missense mutation, Genetics(clinical), Hypertelorism, Genetics (clinical), Loeys-Dietz Syndrome, business.industry, Marfanoid, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], medicine.disease, Connective tissue disease, 030104 developmental biology, medicine.anatomical_structure, connective tissue disease, aortic aneurysm and dissection, Human medicine, medicine.symptom, business, arterial aneurysmal disease, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]