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1دورية أكاديمية
المصدر: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES ; ISSN: 1422-0067
مصطلحات موضوعية: Biology and Life Sciences, Medicine and Health Sciences, Ectopic mineralization, vitamin K, matrix gla protein, pseudoxanthoma elasticum, PXE-like syndrome, vascular calcification, chronic kidney disease, Keutel syndrome, MATRIX-GLA-PROTEIN, MOUSE MODEL, CUTIS LAXA, ABCC6(-/-) MICE, CLINICAL-MANIFESTATIONS, DEPENDENT CARBOXYLATION, ARTERIAL CALCIFICATION, TISSUE MINERALIZATION
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8613701Test; http://hdl.handle.net/1854/LU-8613701Test; https://biblio.ugent.be/publication/8613701/file/8613743Test
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2دورية أكاديمية
المؤلفون: De Vilder, Eva, Debacker, Jens, Vanakker, Olivier
المصدر: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES ; ISSN: 1422-0067
مصطلحات موضوعية: Biology and Life Sciences, Medicine and Health Sciences, gamma-carboxylation, GGCX, cutis laxa, pseudoxanthoma elasticum, VKCFD1, elastic fibers, GAMMA-GLUTAMYL-CARBOXYLASE, COAGULATION-FACTOR DEFICIENCY, K-DEPENDENT CARBOXYLASE, CONGENITAL COMBINED DEFICIENCY, GLA-RICH PROTEIN, COMPOUND HETEROZYGOSITY, TRANSMEMBRANE DOMAIN, MASS-SPECTROMETRY
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/8510257Test; http://hdl.handle.net/1854/LU-8510257Test; http://dx.doi.org/10.3390/ijms18020240Test; https://biblio.ugent.be/publication/8510257/file/8510261Test
الإتاحة: https://doi.org/10.3390/ijms18020240Test
https://biblio.ugent.be/publication/8510257Test
http://hdl.handle.net/1854/LU-8510257Test
https://biblio.ugent.be/publication/8510257/file/8510261Test -
3دورية أكاديمية
المؤلفون: Hosen, Mohammad Jakir, Van Nieuwerburgh, Filip, Steyaert, Wouter, Deforce, Dieter, Martin, Ludovic, Leftheriotis, Georges, De Paepe, Anne, Coucke, Paul, Vanakker, Olivier
المصدر: JOURNAL OF INVESTIGATIVE DERMATOLOGY ; ISSN: 1081-5589
مصطلحات موضوعية: Medicine and Health Sciences, COMPOUND HETEROZYGOSITY, ABCC6 GENE, CALCIFICATION DISORDERS, MUTATION DETECTION, BETA-THALASSEMIA, CUTIS LAXA, PHENOTYPE, IDENTIFICATION, SPECTRUM, PXE
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/5755757Test; http://hdl.handle.net/1854/LU-5755757Test; http://dx.doi.org/10.1038/jid.2014.421Test; https://biblio.ugent.be/publication/5755757/file/5755758Test
الإتاحة: https://doi.org/10.1038/jid.2014.421Test
https://biblio.ugent.be/publication/5755757Test
http://hdl.handle.net/1854/LU-5755757Test
https://biblio.ugent.be/publication/5755757/file/5755758Test -
4دورية أكاديمية
المؤلفون: Kariminejad, Ariana, Bozorgmehr, Bita, Najafi, Abdolhamid, Khoshaeen, Atefeh, Ghalandari, Maryam, Najmabadi, Hossein, Kariminejad, Mohamad H., Vanakker, Olivier M., Hosen, Mohammad J., Malfait, Fransiska, QUAGLINO, Daniela, Florijn, Ralph J., Bergen, Arthur A. B., Hennekam, Raoul C.
المساهمون: Kariminejad, Ariana, Bozorgmehr, Bita, Najafi, Abdolhamid, Khoshaeen, Atefeh, Ghalandari, Maryam, Najmabadi, Hossein, Kariminejad, Mohamad H., Vanakker, Olivier M., Hosen, Mohammad J., Malfait, Fransiska, Quaglino, Daniela, Florijn, Ralph J., Bergen, Arthur A. B., Hennekam, Raoul C.
مصطلحات موضوعية: Adolescent, Adult, Carbon-Carbon Ligase, Child, Cutis Laxa, Family Health, Female, Heterozygote, Homozygote, Human, Male, Middle Aged, Pedigree, Phenotype, Pseudoxanthoma Elasticum, RNA Splice Site, Retinitis Pigmentosa, Skin, Vitamin K, Young Adult, Biochemistry, Cell Biology, Molecular Biology, Medicine (all)
الوقت: 2708
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24739904; info:eu-repo/semantics/altIdentifier/wos/WOS:000340352200010; volume:134; firstpage:2331; lastpage:2338; journal:JOURNAL OF INVESTIGATIVE DERMATOLOGY; http://hdl.handle.net/11380/1084142Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84906318378; http://www.nature.com/jid/index.htmlTest
الإتاحة: https://doi.org/10.1038/jid.2014.191Test
http://hdl.handle.net/11380/1084142Test
http://www.nature.com/jid/index.htmlTest -
5دورية أكاديمية
المؤلفون: Vanakker, Olivier, Callewaert, Bert, Malfait, Fransiska, Coucke, Paul
المساهمون: Chakravarti, A, Green, E
المصدر: Annual Review of Genomics and Human Genetics ; ISSN: 1527-8204 ; ISBN: 9780824337162
مصطلحات موضوعية: Medicine and Health Sciences, pseudoxanthoma elasticum, HYDROXYLYSINE-DEFICIENT COLLAGEN, cutis laxa, next-generation sequencing, Ehlers-Danlos syndrome, gene discovery, EHLERS-DANLOS-SYNDROME, OF-FUNCTION MUTATIONS, RECESSIVE CUTIS LAXA, ENCODING DELTA(1)-PYRROLINE-5-CARBOXYLATE SYNTHASE, MISSENSE MUTATION, TENASCIN-X, PSEUDOXANTHOMA-ELASTICUM, V COLLAGEN, SYNDROME TYPE-IV
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/6967852Test; http://hdl.handle.net/1854/LU-6967852Test; http://dx.doi.org/10.1146/annurev-genom-090314-050039Test; https://biblio.ugent.be/publication/6967852/file/6967912Test
الإتاحة: https://doi.org/10.1146/annurev-genom-090314-050039Test
https://biblio.ugent.be/publication/6967852Test
http://hdl.handle.net/1854/LU-6967852Test
https://biblio.ugent.be/publication/6967852/file/6967912Test -
6دورية أكاديمية
المؤلفون: Callewaert, Bert, Su, Chi-Ting, Van Damme, Tim, Vlummens, Philip, Malfait, Fransiska, Vanakker, Olivier, Schulz, Bianca, Mac Neal, Meghan, Davis, Elaine C, Lee, Joseph GH, Salhi, Aicha, Unger, Sheila, Heimdal, Ketil, De Almeida, Salome, Kornak, Uwe, Gaspar, Harald, Bresson, Jean-Luc, Prescott, Katrina, Gosendi, Maria E, Mansour, Sahar, Piérard, Gérald E, Madan-Khetarpal, Suneeta, Sciurba, Frank C, Symoens, Sofie, Coucke, Paul, Van Maldergem, Lionel, Urban, Zsolt, De Paepe, Anne
المصدر: HUMAN MUTATION ; ISSN: 1059-7794
مصطلحات موضوعية: Medicine and Health Sciences, FBLN5, LTBP4, Urban-Rifkin-Davis syndrome, fibrillin, cutis laxa, recessive, LATENT-TGF-BETA, MISSENSE MUTATION, EXTRACELLULAR-MATRIX, ELASTIN GENE, ACTIVATION, FIBULIN-5, EMPHYSEMA, TROPOELASTIN, MECHANISMS, DISEASE
وصف الملف: application/pdf
العلاقة: https://biblio.ugent.be/publication/3145342Test; http://hdl.handle.net/1854/LU-3145342Test; http://dx.doi.org/10.1002/humu.22165Test; https://biblio.ugent.be/publication/3145342/file/3145345Test
الإتاحة: https://doi.org/10.1002/humu.22165Test
https://biblio.ugent.be/publication/3145342Test
http://hdl.handle.net/1854/LU-3145342Test
https://biblio.ugent.be/publication/3145342/file/3145345Test -
7دورية أكاديمية
المؤلفون: Hadj-Rabia, Smail, Callewaert, Bert L., Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S., Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, Backer, Julie De, Malfait, Fransiska, Vanakker, Olivier M., Coucke, Paul J., De Paepe, Anne M., Bodemer, Christine
المصدر: Orphanet Journal of Rare Diseases; 2013, Vol. 8 Issue 1, p1-8, 8p, 1 Color Photograph, 1 Diagram, 4 Charts
مصطلحات موضوعية: CUTIS laxa, MOLECULAR biology, ELASTIN, FRAMESHIFT mutation, PHENOTYPES, GENOTYPE-environment interaction
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8دورية أكاديمية
المؤلفون: Kluger, Nicolas, Molès, Jean-Pierre, Vanakker, Olivier M., Pernet, Charlotte, Beylot-Barry, Marie, Bessis, Didier
المصدر: Acta Dermato-Venereologica; Nov2014, Vol. 94 Issue 6, p743-744, 2p
مصطلحات موضوعية: CUTIS laxa, JOINT abnormalities, DERMATOLOGY
النص الكامل