المؤلفون: A. IJpma, L. te Riet, K. M. van de Luijtgaarden, P. M. van Heijningen, J. Burger, D. Majoor-Krakauer, E. V. Rouwet, J. Essers, H. J. M. Verhagen, I. van der Pluijm

المصدر: Journal of Cardiovascular Development and Disease; Volume 6; Issue 4; Pages: 38

مصطلحات موضوعية: abdominal aneurysm, occlusive disease, gene expression profiling, inflammation, TGF-β signaling

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/jcdd6040038Test

الإتاحة: https://doi.org/10.3390/jcdd6040038Test

المؤلفون: M.M.M. Verhagen, W. F. Abdo, M. A.A.P. Willemsen, F. B.L. Hogervorst, D. F.C.M. Smeets, J. A.P. Hiel, E. R. Brunt, M. A. van Rijn, D. Majoor Krakauer, R. A. Oldenburg, A. Broeks, J. I. Last, L. J. van't Veer, M. A.J. Tijssen, A. M.I. Dubois, H. P.H. Kremer, C. M.R. Weemaes, A. M.R. Taylor, M. van Deuren

المساهمون: Amsterdam Neuroscience, Neurology, Pharmacy, Clinical Genetics

المصدر: Neurology, 73, 6, pp. 430-7
Neurology, 73(6), 430-437. Lippincott Williams and Wilkins
Neurology, 73(6), 430-437. LIPPINCOTT WILLIAMS & WILKINS
Neurology, 73, 430-7
Neurology, 73(6), 430-437. Lippincott Williams & Wilkins

مصطلحات موضوعية: Adult, Male, EXPRESSION, Pathology, medicine.medical_specialty, VARIANT, Biology, medicine.disease_cause, PHENOTYPE, Genomic disorders and inherited multi-system disorders [IGMD 3], Ataxia Telangiectasia, Young Adult, SDG 3 - Good Health and Well-being, Chromosome instability, Genotype, medicine, KINASE, Perception and Action [DCN 1], Humans, Missense mutation, Kinase activity, Retrospective Studies, Chromosome 7 (human), Mutation, Cerebellar ataxia, Age Factors, Genetic Variation, Middle Aged, medicine.disease, ATM MUTATIONS, GENE, CANCER, GENOTYPE, 5762INS137, Pathogenesis and modulation of inflammation [N4i 1], Ataxia-telangiectasia, CELLS, Cancer research, Female, Neurology (clinical), medicine.symptom

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfe0471cd48af28f57e2acfe6eec3b83Test
https://doi.org/10.1212/wnl.0b013e3181af33bdTest

المؤلفون: I. Christiaans, E.A. Nannenberg, D. Dooijes, R.J.E. Jongbloed, M. Michels, P.G. Postema, D. Majoor-Krakauer, A. van den Wijngaard, M.M.A.M. Mannens, J.P. van Tintelen, I.M. van Langen, A.A.M. Wilde

المساهمون: Human Genetics, Amsterdam Cardiovascular Sciences, Graduate School, Cardiology, Amsterdam Reproduction & Development (AR&D)

المصدر: Founder Mutations in Inherited Cardiac Diseases in the Netherlands, 37-42
STARTPAGE=37;ENDPAGE=42;TITLE=Founder Mutations in Inherited Cardiac Diseases in the Netherlands
De Nederlandse gezondheidszorg ISBN: 9789036807043

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f809ca73423d4ce760f7855c35ecf1eTest
https://pure.amc.nl/en/publications/founder-mutations-in-hypertrophic-cardiomyopathy-patients-in-the-netherlandsTest(ddcfe383-4fae-4bd2-be7b-d6391a35efd5).html

المؤلفون: Victor H. Garritsen, H. Stroink, Peter E.M. Taschner, Patrick Franken, J. L. M. Keulemans, Frans J. Los, W. J. Kleijer, Monique Losekoot, Robert-Jan H. Galjaard, M. C. M. Eurlings, D. Majoor-Krakauer, O. P. van Diggelen

المصدر: Prenatal Diagnosis. 21:99-101

مصطلحات موضوعية: Mutation, Fetus, medicine.medical_specialty, medicine.diagnostic_test, Obstetrics and Gynecology, Chorionic villus sampling, Prenatal diagnosis, Biology, medicine.disease, medicine.disease_cause, Tripeptidyl peptidase I, Degenerative disease, medicine.anatomical_structure, Endocrinology, Internal medicine, medicine, Chorionic villi, Neuronal ceroid lipofuscinosis, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d7e8060c752914dacc2c3fb749238147Test
https://doi.org/10.1002/1097-0223Test(200102)21:2<99::aid-pd988>3.0.co;2-f

المؤلفون: C R M, Lammens, E M A, Bleiker, S, Verhoef, M G E M, Ausems, D, Majoor-Krakauer, R H, Sijmons, F J, Hes, E B, Gómez-García, T A M, Van Os, L, Spruijt, R B, van der Luijt, A M W, van den Ouweland, M W G, Ruijs, C, Gundy, T, Nagtegaal, N K, Aaronson

المصدر: Psycho-oncology. 20(6)

مصطلحات موضوعية: Adult, Male, Depressive Disorder, von Hippel-Lindau Disease, Middle Aged, Anxiety Disorders, Li-Fraumeni Syndrome, Adjustment Disorders, Young Adult, Cross-Sectional Studies, Surveys and Questionnaires, Adaptation, Psychological, Humans, Female, Genetic Predisposition to Disease, Spouses, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f4e2447b970cc5f09251364bf1b62727Test
https://pubmed.ncbi.nlm.nih.gov/21384469Test

المؤلفون: D, Majoor-Krakauer, P J, Willems, A, Hofman

المصدر: Clinical genetics. 63(2)

مصطلحات موضوعية: Causality, Male, Risk Factors, Amyotrophic Lateral Sclerosis, Mutation, Age Factors, Inheritance Patterns, Humans, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::50ca4f3148105aa13fcf90128a52f87eTest
https://pubmed.ncbi.nlm.nih.gov/12630951Test

المؤلفون: W J, Kleijer, O P, van Diggelen, J L, Keulemans, M, Losekoot, V H, Garritsen, H, Stroink, D, Majoor-Krakauer, P F, Franken, M C, Eurlings, P E, Taschner, F J, Los, R J, Galjaard

المصدر: Prenatal diagnosis. 21(2)

مصطلحات موضوعية: Pregnancy Trimester, First, Chorionic Villi Sampling, Tripeptidyl-Peptidase 1, Neuronal Ceroid-Lipofuscinoses, Pregnancy, Prenatal Diagnosis, DNA Mutational Analysis, Endopeptidases, Humans, Female, Chorionic Villi, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, Aminopeptidases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::f32dcebc6b5e7bc36a6217818d0bcf2dTest
https://pubmed.ncbi.nlm.nih.gov/11241534Test