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1دورية أكاديمية
المؤلفون: Ilse Van Gucht, Alice Krebsova, Birgitte Rode Diness, Steven Laga, Dave Adlam, Marlies Kempers, Nilesh J. Samani, Tom R. Webb, Ania A. Baranowska, Lotte Van Den Heuvel, Melanie Perik, Ilse Luyckx, Nils Peeters, Pavel Votypka, Milan Macek, Josephina Meester, Lut Van Laer, Aline Verstraeten, Bart L. Loeys
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 13, p 7111 (2021)
مصطلحات موضوعية: TAAD, LOX, ECM, MFS, LDS, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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المؤلفون: An Boudewyns, Jenneke van den Ende, Nils Peeters, Guy Van Camp, Anouk Hofkens-Van den Brandt, Kristof Van Schil, Kristien Wouters, Wim Wuyts
المصدر: Otology and neurotology
مصطلحات موضوعية: Otorhinolaryngology, Human medicine, Neurology (clinical), Sensory Systems
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ada36a33b79ba97a376ae6fd62fbe7
https://doi.org/10.1097/mao.0000000000003841 -
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المؤلفون: Ajay Anand Kumar, Bart Loeys, Gerarda Van De Beek, Nils Peeters, Wim Wuyts, Lut Van Laer, Geert Vandeweyer, Maaike Alaerts
المصدر: Bioinformatics
مصطلحات موضوعية: Computer. Automation, Statistics and Probability, DNA Copy Number Variations, High-Throughput Nucleotide Sequencing, Sequence Analysis, DNA, Biochemistry, Computer Science Applications, Chemistry, Computational Mathematics, Computational Theory and Mathematics, Biology, Engineering sciences. Technology, Molecular Biology, Mathematics, Algorithms
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62e1a11e27940e3bebb52264d5af59d6
https://doi.org/10.1093/bioinformatics/btac756 -
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المؤلفون: Nils Peeters, Frank Declau, Anouk Hofkens-Van den Brandt, Wim Wuyts, Jenneke van den Ende, Guy Van Camp, An Boudewyns
المصدر: Otology and neurotology
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Hearing loss, Hearing Loss, Sensorineural, Auditory neuropathy, Congenital hearing loss, Hearing Loss, Bilateral, Neonatal Screening, Hearing, otorhinolaryngologic diseases, medicine, Humans, Referral and Consultation, Retrospective Studies, business.industry, Waardenburg syndrome, Infant, Newborn, Retrospective cohort study, medicine.disease, Sensory Systems, Work-up, Conductive hearing loss, Otorhinolaryngology, Etiology, Human medicine, Neurology (clinical), medicine.symptom, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b11a8e62b1fcfd2764e9c30c7359416b
https://doi.org/10.1097/mao.0000000000002758 -
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المؤلفون: Lut Van Laer, Marlies Kempers, Anthonie L. Duijnhouwer, Josephina A.N. Meester, Ilse Luyckx, Adeline Jacquinet, Olivier Rombouts, Charlotte Claes, Aline Verstraeten, Janneke Timmermans, Bart Loeys, Céline Geryl, Gretchen MacCarrick, Emeline M. Van Craenenbroeck, Alexander Hoischen, Natzi Sakalihasan, Sarah Van Lent, Harry C. Dietz, Johan Saenen, Geert Vandeweyer, Nils Peeters, Nele Boeckx
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. 1044-1053مصطلحات 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
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6Role 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
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Referral, Hearing Loss, Sensorineural, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Child, 030223 otorhinolaryngology, Retrospective Studies, business.industry, High-Throughput Nucleotide Sequencing, Infant, Sensory Systems, Work-up, 030104 developmental biology, Otorhinolaryngology, Family medicine, Etiology, Female, Human medicine, Neurology (clinical), business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdd6d7578a767ece9a847ac363990845
https://doi.org/10.1097/mao.0000000000001847 -
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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/ijms22137111مصطلحات 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
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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, 220-227مصطلحات 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]
وصف الملف: pdf; application/pdf
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المؤلفون: Jeroen M.H. Hendriks, Tom Vermeulen, E.M. Van Craenenbroeck, Aline Verstraeten, Ilse Luyckx, L. Van Laer, Bart Loeys, I. Rodrigus, Wim Wuyts, Nils Peeters, Dorien Proost, Johan Saenen
المصدر: Clinical Genetics. 92:444-446
مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, business.industry, Nonsense mutation, Genetics, Medicine, MYLK, In patient, Family history, Bioinformatics, business, Genetics (clinical)
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المؤلفون: Elyssa, Cannaerts, Marlies, Kempers, Alessandra, Maugeri, Carlo, Marcelis, Thatjana, Gardeitchik, Julie, Richer, Dimitra, Micha, Luc, Beauchesne, Janneke, Timmermans, Paul, Vermeersch, Nathalie, Meyten, Sébastien, Chénier, Gerarda, van de Beek, Nils, Peeters, Maaike, Alaerts, Dorien, Schepers, Lut, Van Laer, Aline, Verstraeten, Bart, Loeys
المصدر: Journal of medical genetics. 56(4)
مصطلحات موضوعية: Adult, Male, Facies, Genetic Variation, Arteries, Smad2 Protein, Middle Aged, Aneurysm, Marfan Syndrome, Pedigree, Aortic Dissection, Phenotype, Amino Acid Substitution, Mutation, Humans, Female, Genetic Predisposition to Disease, Child, Alleles, Genetic Association Studies, Aged