المؤلفون: Syx, Delfien, Ishikawa, Yoshihiro, Gebauer, Jan, Boudko, Sergei P, Guillemyn, Brecht, Van Damme, Tim, D’hondt, Sanne, Symoens, Sofie, Nampoothiri, Sheela, Gould, Douglas B, Baumann, Ulrich, Bächinger, Hans Peter, Malfait, Fransiska

المصدر: PLOS Genetics. 17(2)

مصطلحات موضوعية: Biochemistry and Cell Biology, Biological Sciences, Pediatric, Genetics, Rare Diseases, Osteogenesis Imperfecta, Underpinning research, 1.1 Normal biological development and functioning, Amino Acid Sequence, Cells, Cultured, Child, Preschool, Collagen Type I, Fatal Outcome, Female, HSP47 Heat-Shock Proteins, Humans, Infant, Infant, Newborn, Models, Molecular, Mutation, Missense, Protein Binding, Protein Domains, Protein Processing, Post-Translational, Recombinant Proteins, Sequence Homology, Amino Acid, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/4qv6g1dnTest

المؤلفون: D'hondt, Sanne, Van Damme, Tim, Malfait, Fransiska

المصدر: GENETICS IN MEDICINE ; ISSN: 1098-3600 ; ISSN: 1530-0366

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences, connective tissue disorder, Ehlers-Danlos syndrome, nonvascular subtype, systematic review, vascular complication, BRITTLE CORNEA SYNDROME, SYNDROME TYPE-VI, THUMB-CLUBFOOT SYNDROME, SYNDROME TYPE-I, TENASCIN-X DEFICIENCY, SPLICE ACCEPTOR SITE, KYPHOSCOLIOTIC TYPE, SYNDROME EDS, COL1A2 GENE, EXTRACELLULAR-MATRIX

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8540056Test; http://hdl.handle.net/1854/LU-8540056Test; http://dx.doi.org/10.1038/gim.2017.138Test; https://biblio.ugent.be/publication/8540056/file/8614994Test

الإتاحة: https://doi.org/10.1038/gim.2017.138Test
https://biblio.ugent.be/publication/8540056Test
http://hdl.handle.net/1854/LU-8540056Test
https://biblio.ugent.be/publication/8540056/file/8614994Test

المؤلفون: Symoens, Sofie, Barnes, Aileen M., Gistelinck, Charlotte, Malfait, Fransiska, Guillemyn, Brecht, Steyaert, Wouter, Syx, Delfien, D’hondt, Sanne, Biervliet, Martine, De Backer, Julie, Witten, Eckhard P., Leikin, Sergey, Makareeva, Elena, Gillessen-Kaesbach, Gabriele, Huysseune, Ann, Vleminckx, Kris, Willaert, Andy, De Paepe, Anne, Marini, Joan C., Coucke, Paul J.

المصدر: The American Journal of Human Genetics ; volume 97, issue 4, page 521-534 ; ISSN 0002-9297

الإتاحة: https://doi.org/10.1016/j.ajhg.2015.08.009Test
https://api.elsevier.com/content/article/PII:S0002929715003316?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S0002929715003316?httpAccept=text/xmlTest

المؤلفون: Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bachinger, Hans Peter, De Paepe, Anne, Coucke, Paul J., Kayserili, Hulya, Symoens, Sofie, Malfait, Fransiska, D'hondt, Sanne

المساهمون: Ghent University ,, 31874

مصطلحات موضوعية: Yaşam Bilimleri, GENETİK VE HAYAT, Moleküler Biyoloji ve Genetik, Yaşam Bilimleri (LIFE), TIP, ARAŞTIRMA VE DENEYSEL, Klinik Tıp, Klinik Tıp (MED), Tıp, Sağlık Bilimleri, Dahili Tıp Bilimleri, Tıbbi Genetik, Tıbbi Ekoloji ve Hidroklimatoloji, Temel Bilimler

العلاقة: ORPHANET JOURNAL OF RARE DISEASES; Symoens S., Malfait F., D'hondt S., Callewaert B., Dheedene A., Steyaert W., Bachinger H. P. , De Paepe A., Kayserili H., Coucke P. J. , "Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans", ORPHANET JOURNAL OF RARE DISEASES, cilt.8, 2013; vv_1032021; av_99c36377-56cd-478d-b9e3-b7cff815fbf2; http://hdl.handle.net/20.500.12627/103397Test; https://doi.org/10.1186/1750-1172-8-154Test

الإتاحة: https://doi.org/20.500.12627/103397Test
https://doi.org/10.1186/1750-1172-8-154Test
https://hdl.handle.net/20.500.12627/103397Test

المؤلفون: Symoens, Sofie, Malfait, Fransiska, D'hondt, Sanne, Callewaert, Bert, Dheedene, Annelies, Steyaert, Wouter, Bächinger, Hans Peter, De Paepe, Anne, Kayserili, Hulya, Coucke, Paul

المصدر: ORPHANET JOURNAL OF RARE DISEASES ; ISSN: 1750-1172

مصطلحات موضوعية: Medicine and Health Sciences, Type I collagen, Osteogenesis imperfecta, OASIS, CREB3L1, Endoplasmic reticulum stress

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/4226025Test; http://hdl.handle.net/1854/LU-4226025Test; http://dx.doi.org/10.1186/1750-1172-8-154Test; https://biblio.ugent.be/publication/4226025/file/4226051Test

الإتاحة: https://doi.org/10.1186/1750-1172-8-154Test
https://biblio.ugent.be/publication/4226025Test
http://hdl.handle.net/1854/LU-4226025Test
https://biblio.ugent.be/publication/4226025/file/4226051Test

المؤلفون: D'hondt, Sanne, Guillemyn, Brecht, Symoens, Sofie, De Rycke, Riet, Ishikawa, Yoshi, Bachinger, Hans Peter, Janssens, Sophie, Bertrand, Mathieu, Malfait, Fransiska

المصدر: Belgian Society for Human Genetics, 17th Annual meeting, Abstracts

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences

العلاقة: https://biblio.ugent.be/publication/8513568Test; http://hdl.handle.net/1854/LU-8513568Test

الإتاحة: https://biblio.ugent.be/publication/8513568Test
http://hdl.handle.net/1854/LU-8513568Test

المؤلفون: D'hondt, Sanne, Guillemyn, Brecht, Syx, Delfien, Symoens, Sofie, De Rycke, Riet, Vanhoutte, Leen, Toussaint, Wendy, Lambrecht, Bart, De Paepe, Anne, Keene, Douglas R, Ishikawa, Yoshihiro, Bächinger, Hans Peter, Janssens, Sophie, Bertrand, Mathieu, Malfait, Fransiska

المصدر: MATRIX BIOLOGY ; ISSN: 0945-053X

مصطلحات موضوعية: Biology and Life Sciences, Medicine and Health Sciences, Type III collagen, Vascular Ehlers-Danlos syndrome, Heritable connective tissue disorder, Transgenic mouse model, Fibrillogenesis, EHLERS-DANLOS-SYNDROME, SYNDROME TYPE-IV, MUTATION DATABASE, HAPLOINSUFFICIENCY, FIBRILS, SKIN, BIOSYNTHESIS, DIAMETER, REPAIR, CELLS

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8565001Test; http://hdl.handle.net/1854/LU-8565001Test; http://dx.doi.org/10.1016/j.matbio.2018.03.008Test; https://biblio.ugent.be/publication/8565001/file/8565004Test

الإتاحة: https://doi.org/10.1016/j.matbio.2018.03.008Test
https://biblio.ugent.be/publication/8565001Test
http://hdl.handle.net/1854/LU-8565001Test
https://biblio.ugent.be/publication/8565001/file/8565004Test

المؤلفون: D'hondt, Sanne, Guillemyn, Brecht, Symoens, Sofie, Ishikawa, Yoshi, Bachinger, Hans Peter, Janssens, Sophie, Bertrand, Mathieu, Malfait, Fransiska

المصدر: Belgian Society of Human Genetics (BeSHG) and the Nederlandse Vereniging voor Humane Genetica (NVHG), 1st Joint meeting, Abstract book

مصطلحات موضوعية: Biology and Life Sciences

العلاقة: https://biblio.ugent.be/publication/8513541Test; http://hdl.handle.net/1854/LU-8513541Test

الإتاحة: https://biblio.ugent.be/publication/8513541Test
http://hdl.handle.net/1854/LU-8513541Test

المؤلفون: D'hondt, Sanne, Guillemyn, Brecht, Symoens, Sofie, De Rycke, Riet, Ishikawa, Yoshi, Bachinger, Hans Peter, Janssens, Sophie, Bertrand, Mathieu, Malfait, Fransiska

المصدر: American Society for Matrix Biology, Biennial meeting, Abstracts

مصطلحات موضوعية: Biology and Life Sciences

العلاقة: https://biblio.ugent.be/publication/8513538Test; http://hdl.handle.net/1854/LU-8513538Test

الإتاحة: https://biblio.ugent.be/publication/8513538Test
http://hdl.handle.net/1854/LU-8513538Test

المؤلفون: D'hondt, Sanne

المساهمون: Malfait, Fransiska, Bertrand, Mathieu, Janssens, Sophie

مصطلحات موضوعية: Medicine and Health Sciences, Biology and Life Sciences

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______330::c414aae030587951161c40b0d10b7ce6Test
https://biblio.ugent.be/publication/8540385/file/8540392Test