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1Conference
المؤلفون: Colman, Marlies, Vroman, Robin, Dhooge, Tibbe, Malfait, Zoë, Burnyté, B., Nampoothiri, S., Kariminejad, A., Syx, Delfien, Malfait, Fransiska
المصدر: ASMB Biennial Meeting : 'The Matrix in Focus : Matrix, Cells, and Interactions in Health, Disease, Aging, and Regeneration', Abstracts
مصطلحات موضوعية: Medicine and Health Sciences
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/8745209; http://hdl.handle.net/1854/LU-8745209; https://biblio.ugent.be/publication/8745209/file/8745210
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2Academic Journal
المؤلفون: Dhooge, Tibbe, Van Damme, Tim, Syx, Delfien, Mosquera, Laura Muiño, Nampoothiri, Sheela, Radhakrishnan, Anil, Simsek-Kiper, Pelin Özlem P.O., Utine, Gülen Eda, Bonduelle, Maryse, Migeotte, Isabelle, Essawi, Osama, Ceylaner, Serdar, Al Kindy, Adila, Tinkle, Brad, Symoens, Sofie, Malfait, Fransiska
المصدر: Human mutation
مصطلحات موضوعية: Biologie, Génétique clinique, brittle cornea syndrome, Ehlers-Danlos syndrome, multisystemic disorder, PRDM5, ZNF469
وصف الملف: 1 full-text file(s): application/pdf
Relation: uri/info:doi/10.1002/humu.24199; uri/info:pmid/33739556; uri/info:scp/85103542103; https://dipot.ulb.ac.be/dspace/bitstream/2013/322431/3/BrittleCorneaSyndrome.pdf; http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/322431
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3Academic Journal
المؤلفون: Dhooge, Tibbe, Syx, Delfien, Hermanns-Lê, Trinh, Hausser, Ingrid, Mortier, Geert, Zonana, Jonathan, Symoens, Sofie, Byers, Peter H., Malfait, Fransiska
المصدر: Genetics in Medicine ; volume 23, issue 12, page 2378-2385 ; ISSN 1098-3600
الاتاحة: http://dx.doi.org/10.1038/s41436-021-01274-y
https://www.nature.com/articles/s41436-021-01274-y.pdf
https://www.nature.com/articles/s41436-021-01274-y
https://api.elsevier.com/content/article/PII:S1098360021054459?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021054459?httpAccept=text/plain -
4Conference
المؤلفون: Dhooge, Tibbe, Delbaere, Sarah, Syx, Delfien, Symoens, Sofie, Malfait, Fransiska
المصدر: Rarer types of Ehlers-Danlos syndromes, Scientific Meeting, Abstracts
مصطلحات موضوعية: Medicine and Health Sciences
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/8643522; http://hdl.handle.net/1854/LU-8643522; https://biblio.ugent.be/publication/8643522/file/8665259
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5Conference
المؤلفون: Colman, Marlies, De Wandele, Inge, Dhooge, Tibbe, Symoens, Sofie, Syx, Delfien, Malfait, Fransiska
مصطلحات موضوعية: Medicine and Health Sciences
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/8650448; https://biblio.ugent.be/publication/8650448/file/8650449
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6Academic Journal
المؤلفون: Delbaere, Sarah, Dhooge, Tibbe, Syx, Delfien, Petit, Florence, Goemans, Nathalie, Destrée, Anne, Vanakker, Olivier, De Rycke, Riet, Symoens, Sofie, Malfait, Fransiska
المساهمون: Methusalem grant
المصدر: Genetics in Medicine ; volume 22, issue 1, page 112-123 ; ISSN 1098-3600
الاتاحة: http://dx.doi.org/10.1038/s41436-019-0599-6
http://www.nature.com/articles/s41436-019-0599-6.pdf
http://www.nature.com/articles/s41436-019-0599-6
https://api.elsevier.com/content/article/PII:S1098360021010960?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021010960?httpAccept=text/plain -
7Academic Journal
المؤلفون: Colman, Marlies, Vroman, Robin, Dhooge, Tibbe, Malfait, Zoë, Symoens, Sofie, Burnyté, Biruté, Nampoothiri, Sheela, Kariminejad, Ariana, Malfait, Fransiska, Syx, Delfien
المصدر: HUMAN MUTATION ; ISSN: 1059-7794 ; ISSN: 1098-1004
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, Genetics (clinical), Genetics, kyphoscoliotic EDS, FKBP22, extracellular matrix, Ehlers-Danlos syndrome, connective tissue, collagen
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/8770419; http://hdl.handle.net/1854/LU-8770419; http://doi.org/10.1002/humu.24456; https://biblio.ugent.be/publication/8770419/file/8770420
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8Academic Journal
المؤلفون: ŞİMŞEK KİPER, PELİN ÖZLEM, ÜTİNE, GÜLEN EDA, Malfait, Fransiska, Symoens, Sofie, Tinkle, Brad, Al Kindy, Adila, Ceylaner, Serdar, Essawi, Osama, Migeotte, Isabelle, Bonduelle, Maryse, Radhakrishnan, Anil, Nampoothiri, Sheela, Mosquera, Laura Muino, Syx, Delfien, Van Damme, Tim, Dhooge, Tibbe
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9Conference
المؤلفون: Dhooge, Tibbe, Van Damme, Tim, Syx, Delfien, Symoens, Sofie, Malfait, Fransiska
المصدر: Belgian Society for Human Genetics, 20th Annual meeting, Abstracts
مصطلحات موضوعية: Medicine and Health Sciences
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10Academic Journal
المؤلفون: Colman, Marlies, Syx, Delfien, De Wandele, Inge, Dhooge, Tibbe, Symoens, Sofie, Malfait, Fransiska
المصدر: HUMAN MUTATION ; ISSN: 1059-7794 ; ISSN: 1098-1004
مصطلحات موضوعية: Medicine and Health Sciences, V COLLAGEN, ARTERIAL RUPTURE, COL5A1, MUTATIONS, ANEURYSM, DISSECTION, DISEASE, EVENTS, CHAIN, FORM, classical Ehlers-Danlos syndrome, clinical and molecular, characteristics, genotype-phenotype correlations, heritable connective, tissue disease, type V collagen
وصف الملف: application/pdf
Relation: https://biblio.ugent.be/publication/8724173; http://doi.org/10.1002/humu.24258; https://biblio.ugent.be/publication/8724173/file/8724175
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11Academic Journal
المؤلفون: Dhooge, Tibbe, Syx, Delfien, Hermanns-Lê, Trinh, Hausser, Ingrid, Mortier, Geert, Zonana, Jonathan, Symoens, Sofie, Byers, Peter H., Malfait, Fransiska
المصدر: 1098-3600 ; Genetics in medicine
مصطلحات موضوعية: Human medicine
Relation: info:eu-repo/semantics/altIdentifier/isi/000673183300001
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12Conference
المؤلفون: Dhooge, Tibbe, Delbaere, Sarah, Syx, Delfien, Symoens, Sofie, Malfait, Fransiska
المصدر: Collagen, Gordon Research Conference, Abstracts
مصطلحات موضوعية: Medicine and Health Sciences
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13Conference
المؤلفون: Dhooge, Tibbe, Delbaere, Sarah, Syx, Delfien, Symoens, Sofie, Malfait, Fransiska
المصدر: Research Day & Student Research Symposium
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences
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14Conference
المؤلفون: Delbaere, Sarah, Dhooge, Tibbe, Syx, Delfien, Petit, Florence, Goemans, Nathalie, Destree, Anne, Vanakker, Olivier, De Rycke, Riet, Symoens, Sofie, Malfait, Fransiska
المصدر: Belgian Society for Human Genetics, 19th Annual meeting, Abstracts
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences
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15
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16Conference
المؤلفون: Dhooge, Tibbe, Delbaere, Sarah, Syx, Delfien, Symoens, Sofie, Malfait, Fransiska
المصدر: Belgian Society for Human Genetics, 18th Annual meeting, Abstracts
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, Ehlers-Danlos syndrome
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17Conference
المؤلفون: Delbaere, Sarah, Dhooge, Tibbe, Syx, Delfien, Symoens, Sofie, Malfait, Fransiska
المصدر: Research Day & Student Research Symposium
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, Ehlers-Danlos syndrome
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18Conference
المؤلفون: Dhooge, Tibbe, Delbaere, Sarah, Syx, Delfien, Symoens, Sofie, Malfait, Fransiska
المصدر: Matrix Biology Europe, Conference abstracts
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences
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19Conference
المؤلفون: Dhooge, Tibbe, Delbaere, Sarah, Syx, Delfien, Symoens, Sofie, Malfait, Fransiska
المصدر: Ehlers-Danlos Syndromes, International symposium, Abstracts
مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences
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20Academic Journal
المؤلفون: Delbaere, Sarah, Dhooge, Tibbe, Syx, Delfien, Petit, Florence, Goemans, Nathalie, Destree, Anne, Vanakker, Olivier, De Rycke, Riet, Symoens, Sofie, Malfait, Fransiska
المساهمون: Université de Lille
مصطلحات موضوعية: collagen VI, connective tissue, myopathy, collagen XII, myopathic Ehlers-Danlos syndrome
Relation: Genetics in medicine . official journal of the American College of Medical Genetics; Genet. Med.; http://hdl.handle.net/20.500.12210/55443