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1دورية أكاديمية
المؤلفون: Ramos, Eliana Marisa, Carecchio, Miryam, Lemos, Roberta, Ferreira, Joana, Legati, Andrea, Sears, Renee Louise, Hsu, Sandy Chan, Panteghini, Celeste, Magistrelli, Luca, Salsano, Ettore, Esposito, Silvia, Taroni, Franco, Richard, Anne-Claire, Tranchant, Christine, Anheim, Mathieu, Ayrignac, Xavier, Goizet, Cyril, Vidailhet, Marie, Maltete, David, Wallon, David, Frebourg, Thierry, Pimentel, Lylyan, Geschwind, Daniel H, Vanakker, Olivier, Galasko, Douglas, Fogel, Brent L, Innes, A Micheil, Ross, Alison, Dobyns, William B, Alcantara, Diana, O'Driscoll, Mark, Hannequin, Didier, Campion, Dominique, French PFBC study group, Oliveira, João R, Garavaglia, Barbara, Coppola, Giovanni, Nicolas, Gaël
المصدر: European journal of human genetics : EJHG. 26(10)
مصطلحات موضوعية: French PFBC study group, Humans, Brain Diseases, Calcinosis, Receptor, Platelet-Derived Growth Factor beta, Proto-Oncogene Proteins c-sis, Receptors, G-Protein-Coupled, Receptors, Virus, Pedigree, Heterozygote, Phenotype, Mutation, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Female, Male, Sodium-Phosphate Cotransporter Proteins, Type III, Genetic Variation, Young Adult, Cognitive Dysfunction, Receptor, Platelet-Derived Growth Factor beta, Receptors, G-Protein-Coupled, Virus, and over, Sodium-Phosphate Cotransporter Proteins, Type III, Genetics, Genetics & Heredity, Clinical Sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/3567x16wTest
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2دورية أكاديمية
المؤلفون: Van Wynsberghe, Judith, Vanakker, Olivier
المصدر: BIOMOLECULES ; ISSN: 2218-273X
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, Molecular Biology, Biochemistry, axial skeleton, premature mineralization, multisystemic disorders, zebrafish model
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01HK4NCCE02QJ9TY4HVMM30KBMTest; http://hdl.handle.net/1854/LU-01HK4NCCE02QJ9TY4HVMM30KBMTest; http://doi.org/10.3390/biom13111621Test; https://biblio.ugent.be/publication/01HK4NCCE02QJ9TY4HVMM30KBM/file/01HK4NJQFER6HN91JTB2Z6PJVCTest
الإتاحة: https://doi.org/10.3390/biom13111621Test
https://biblio.ugent.be/publication/01HK4NCCE02QJ9TY4HVMM30KBMTest
http://hdl.handle.net/1854/LU-01HK4NCCE02QJ9TY4HVMM30KBMTest
https://biblio.ugent.be/publication/01HK4NCCE02QJ9TY4HVMM30KBM/file/01HK4NJQFER6HN91JTB2Z6PJVCTest -
3دورية أكاديمية
المؤلفون: Lindenkamp, Christopher, Pluemers, Ricarda, Osterhage, Michel R., Vanakker, Olivier, Van Wynsberghe, Judith, Knabbe, Cornelius, Hendig, Doris
المصدر: BIOMEDICINES ; ISSN: 2227-9059
مصطلحات موضوعية: Medicine and Health Sciences, pseudoxanthoma elasticum, JAK/STAT3, complement system, baricitinib, FACTOR-H, SECRETORY PHENOTYPE, MOUSE MODEL, MINERALIZATION, TUMORIGENESIS, METABOLISM, EXPRESSION, PATHWAY, GENE
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01HGGBTKDJT5QH7BPPAANZA12VTest; http://hdl.handle.net/1854/LU-01HGGBTKDJT5QH7BPPAANZA12VTest; http://doi.org/10.3390/biomedicines11102673Test; https://biblio.ugent.be/publication/01HGGBTKDJT5QH7BPPAANZA12V/file/01HGGBV2KPTECH87K466YPFA4YTest
الإتاحة: https://doi.org/10.3390/biomedicines11102673Test
https://biblio.ugent.be/publication/01HGGBTKDJT5QH7BPPAANZA12VTest
http://hdl.handle.net/1854/LU-01HGGBTKDJT5QH7BPPAANZA12VTest
https://biblio.ugent.be/publication/01HGGBTKDJT5QH7BPPAANZA12V/file/01HGGBV2KPTECH87K466YPFA4YTest -
4دورية أكاديمية
المؤلفون: Van Gils, Matthias, Depauw, Justin, Coucke, Paul, Aerts, Shari, Verschuere, Shana, Nollet, Lukas, Vanakker, Olivier
المصدر: JOURNAL OF CLINICAL MEDICINE ; ISSN: 2077-0383
مصطلحات موضوعية: Medicine and Health Sciences, GENERALIZED ARTERIAL CALCIFICATION, ECTOPIC MINERALIZATION, MOUSE MODEL, ALKALINE-PHOSPHATASE, ABCC6 GENE, MUTATIONS, FIBROBLASTS, ABCC6, heterozygous carriers, inorganic pyrophosphate, pseudoxanthoma, elasticum, genotype-phenotype correlation, biomarker
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01GX5SJ0WDQ7XM0MBKJK2V6YW3Test; http://hdl.handle.net/1854/LU-01GX5SJ0WDQ7XM0MBKJK2V6YW3Test; http://doi.org/10.3390/jcm12051893Test; https://biblio.ugent.be/publication/01GX5SJ0WDQ7XM0MBKJK2V6YW3/file/01GX5SJK53173R8KRPVSHVGVFDTest
الإتاحة: https://doi.org/10.3390/jcm12051893Test
https://biblio.ugent.be/publication/01GX5SJ0WDQ7XM0MBKJK2V6YW3Test
http://hdl.handle.net/1854/LU-01GX5SJ0WDQ7XM0MBKJK2V6YW3Test
https://biblio.ugent.be/publication/01GX5SJ0WDQ7XM0MBKJK2V6YW3/file/01GX5SJK53173R8KRPVSHVGVFDTest -
5دورية أكاديمية
المؤلفون: Ervilha Pereira, Pedro, Schuermans, Nika, Meylemans, Antoon, LeBlanc, Pontus, Versluys, Lauren, Copley, Katie E.E., Rubien, Jack D.D., Altheimer, Christopher, Peetermans, Myra, Debackere, Elke, Vanakker, Olivier, Janssens, Sandra, Baets, Jonathan, Verhoeven, Kristof, Lammens, Martin, Symoens, Sofie, De Paepe, Boel, Barmada, Sami J.J., Shorter, James, De Bleecker, Jan L.L., Bogaert, Elke, Dermaut, Bart
المصدر: 0001-6322 ; Acta neuropathologica
مصطلحات موضوعية: Human medicine
العلاقة: info:eu-repo/semantics/altIdentifier/isi/000961215300001
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6دورية أكاديمية
المؤلفون: Lindenkamp, Christopher (M. Sc.), Plümers, Ricarda (M. Sc.), Osterhage, Michel Robin, Vanakker, Olivier (Ph. D.), Van Wynsberghe, Judith (M. Sc.), Knabbe, Cornelius (Prof. Dr. med.), Hendig, Doris (Dr. rer. nat.)
مصطلحات موضوعية: ddc:610
وصف الملف: application/pdf
العلاقة: https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/11070Test; urn:nbn:de:hbz:294-110705; https://nbn-resolving.org/urn:nbn:de:hbz:294-110705Test; https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/11070/HendigDoris29092023.pdfTest; https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/11070/HendigDoris29092023S.pdfTest
الإتاحة: https://hss-opus.ub.ruhr-uni-bochum.de/opus4/frontdoor/index/index/docId/11070Test
https://nbn-resolving.org/urn:nbn:de:hbz:294-110705Test
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/11070/HendigDoris29092023.pdfTest
https://hss-opus.ub.ruhr-uni-bochum.de/opus4/files/11070/HendigDoris29092023S.pdfTest -
7دورية أكاديمية
المؤلفون: Ervilha Pereira, Pedro, Schuermans, Nika, Meylemans, Antoon, LeBlanc, Pontus, Versluys, Lauren, Copley, Katie E., Rubien, Jack D., Altheimer, Christopher, Peetermans, Myra, Debackere, Elke, Vanakker, Olivier, Janssens, Sandra, Baets, Jonathan, Verhoeven, Kristof, Lammens, Martin, Symoens, Sofie, De Paepe, Boel, Barmada, Sami J., Shorter, James, De Bleecker, Jan L., Bogaert, Elke, Dermaut, Bart
المساهمون: Ghent University Fund for Alzheimer's disease and related disorders, Research Foundation Flanders, Association Belge contre les Maladies Neuro-Musculaires, Bijzonder Onderzoeksfonds UGent, Horizon 2020 Framework Programme, NIH, Robert Packard Center for ALS Research, Johns Hopkins University, Target ALS, Association for Frontotemporal Degeneration, ALS Association, Office of the Assistant Secretary of Defense for Health Affairs through the Amyotrophic Lateral Sclerosis Research Program, family of Angela Dobson and Lyndon Welch, A. Alfred Taubman Medical Research Institute
المصدر: Acta Neuropathologica ; volume 145, issue 6, page 793-814 ; ISSN 0001-6322 1432-0533
مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Pathology and Forensic Medicine
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8كتاب
المؤلفون: Dangreau, Lisa, Nitschke, Yvonne, Rutsch, Frank, Vanakker, Olivier M
المصدر: Circ Genom Precis Med ; ISSN:2574-8300
مصطلحات موضوعية: blood pressure, functional variant validation, oligogenic inheritance, peripheral artery disease, smoking
العلاقة: https://doi.org/10.1161/CIRCGEN.124.004574Test; https://pubmed.ncbi.nlm.nih.gov/38916187Test
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9دورية أكاديمية
المؤلفون: Szeri, Flora, Miko, Agnes, Navasiolava, Nastassia, Kaposi, Ambrus, Verschuere, Shana, Molnar, Beatrix, Li, Qiaoli, Terry, Sharon F, Boraldi, Federica, Uitto, Jouni, van de Wetering, Koen, Martin, Ludovic, Quaglino, Daniela, Vanakker, Olivier M, Tory, Kalman, Aranyi, Tamas
المساهمون: Szeri, Flora, Miko, Agne, Navasiolava, Nastassia, Kaposi, Ambru, Verschuere, Shana, Molnar, Beatrix, Li, Qiaoli, Terry, Sharon F, Boraldi, Federica, Uitto, Jouni, van de Wetering, Koen, Martin, Ludovic, Quaglino, Daniela, Vanakker, Olivier M, Tory, Kalman, Aranyi, Tamas
مصطلحات موضوعية: calcification, genetic diagnosi, incomplete penetrance, pseudoxanthoma elasticum, pyrophosphate, rare disease
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36317459; info:eu-repo/semantics/altIdentifier/wos/WOS:000883805600001; volume:43; issue:12; firstpage:1872; lastpage:1881; journal:HUMAN MUTATION; https://hdl.handle.net/11380/1293410Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142301073
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10مؤتمر
المؤلفون: Dangreau, Lisa, Nollet, Lukas, Van Gils, Matthias, Willaert, Andy, Coucke, Paul, Vanakker, Olivier
المصدر: RARE-MED Symposium 2022, Abstracts
مصطلحات موضوعية: Biology and Life Sciences
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/01GM62BEDTX5MN67VKS89CEJK8Test; http://hdl.handle.net/1854/LU-01GM62BEDTX5MN67VKS89CEJK8Test; https://biblio.ugent.be/publication/01GM62BEDTX5MN67VKS89CEJK8/file/01GM63QCZP5JD3PRHFS0ZKKMXRTest
