المؤلفون: Angwin, C, Zschocke, J, Kammin, T, Bjorck, E, Bowen, J, Brady, AF, Burns, H, Cummings, C, Gardner, R, Ghali, N, Grobner, R, Harris, J, Higgins, M, Johnson, D, Lepperdinger, U, Milnes, D, Pope, FM, Sehra, R, Kapferer-Seebacher, I, Sobey, G, Van Dijk, FS

المصدر: Frontiers in genetics. 14:1136339

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:152973494Test

المؤلفون: Zamiri, M., Wilson, N. J., Mackenzie, A., Sobey, G., Leitch, C., Smith, F. J. D.

المصدر: Zamiri , M , Wilson , N J , Mackenzie , A , Sobey , G , Leitch , C & Smith , F J D 2019 , ' Painful punctate palmoplantar keratoderma due to heterozygous mutations in AAGAB ' , British Journal of Dermatology , vol. 180 , no. 5 , pp. 1250-1251 . https://doi.org/10.1111/bjd.17442Test

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/513e1882-fef0-4faa-b820-a5c037293414Test

الإتاحة: https://doi.org/10.1111/bjd.17442Test
https://discovery.dundee.ac.uk/en/publications/513e1882-fef0-4faa-b820-a5c037293414Test
https://discovery.dundee.ac.uk/ws/files/29210177/bjd.17442.pdfTest

المؤلفون: Giunta, C., Baumann, M., Fauth, C., Lindert, U., Abdalla, E.M., Brady, A.F., Collins, J., Dastgir, J., Donkervoort, S., Ghali, N., Johnson, D.S., Kariminejad, A., Koch, J., Kraenzlin, M., Lahiri, N., Lozic, B., Manzur, A.Y., Morton, J.E.V., Pilch, J., Pollitt, R.C., Schreiber, G., Shannon, N.L., Sobey, G., Vandersteen, A., van Dijk, F.S., Witsch-Baumgartner, M., Zschocke, J., Pope, F.M., Bönnemann, C.G., Rohrbach, M.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/119110/1/gim201770a.pdfTest; Giunta, C., Baumann, M., Fauth, C. et al. (27 more authors) (2018) A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genetics in Medicine, 20 (1). pp. 42-54. ISSN 1098-3600

الإتاحة: https://eprints.whiterose.ac.uk/119110Test/
https://eprints.whiterose.ac.uk/119110/1/gim201770a.pdfTest

المؤلفون: Wilson, N. J., Cole, C., Kroboth, K., Hunter, W. N., Mann, J. A., Irwin McLean, W. H., Kernland Lang, K., Beltraminelli, H., Sabroe, R. A., Tiffin, N., Sobey, G. J., Borradori, L., Simpson, E., Smith, F. J. D.

المصدر: Wilson , N J , Cole , C , Kroboth , K , Hunter , W N , Mann , J A , Irwin McLean , W H , Kernland Lang , K , Beltraminelli , H , Sabroe , R A , Tiffin , N , Sobey , G J , Borradori , L , Simpson , E & Smith , F J D 2017 , ' Mutations in POGLUT1 in Galli-Galli/Dowling Degos-disease ' , British Journal of Dermatology , vol. 176 , no. 1 , pp. 270-274 . https://doi.org/10.1111/bjd.14914Test

وصف الملف: application/pdf

العلاقة: https://discovery.dundee.ac.uk/en/publications/9094f2df-14db-420b-b717-6e146760a6e3Test

الإتاحة: https://doi.org/10.1111/bjd.14914Test
https://discovery.dundee.ac.uk/en/publications/9094f2df-14db-420b-b717-6e146760a6e3Test
https://discovery.dundee.ac.uk/ws/files/12333262/Wilson_et_al_2017_British_Journal_of_Dermatology.pdfTest

المؤلفون: Wilson, N J, Cole, C, Kroboth, K, Hunter, W N, Mann, J A, McLean, W H I, Kernland Lang, K, Beltraminelli, Helmut, Sabroe, R A, Tiffin, N, Sobey, G J, Borradori, Luca, Simpson, E, Smith, F J D

المصدر: Wilson, N J; Cole, C; Kroboth, K; Hunter, W N; Mann, J A; McLean, W H I; Kernland Lang, K; Beltraminelli, Helmut; Sabroe, R A; Tiffin, N; Sobey, G J; Borradori, Luca; Simpson, E; Smith, F J D (2017). Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease. British journal of dermatology, 176(1), pp. 270-274. Wiley-Blackwell 10.1111/bjd.14914

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/93943Test/

الإتاحة: https://doi.org/10.1111/bjd.14914Test
https://boris.unibe.ch/93943/8/bjd14914.pdfTest
https://boris.unibe.ch/93943Test/

المؤلفون: Verstraeten A, Perik MHAM, Baranowska AA, Meester JAN, Van Den Heuvel L, Bastianen J, Kempers M, Krapels IPC, Maas A, Rideout A, Vandersteen A, Sobey G, Johnson D, Fransen E, Ghali N, Webb T, Al-Hussaini A, de Leeuw P, Delmotte P, Lopez-Sublet M, Pappaccogli M, Sprynger M, Toubiana L, European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI), Van Laer L, Van Dijk FS, Vikkula M, Samani NJ, Persu A, Adlam D, Loeys B, Collaborators of the European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI) Beauloye: Christophe: Chenu, Patrick, Hammer, Frank, Goffette, Pierre, Astarci, Parla, Peeters, André, Verhelst, Robert, Van der Niepen, Patricia, Van Tussenbroek, Frank, De Backer, Tine, Gevaert, Sofie, Hemelsoet, Dimitri, Defreyne, Luc, Heuten, Hilde, Yperzeele, Laetitia, Van der Zijden, Thijs, Lengelé, Jean-Philippe, Krzesinski, Jean-Marie, Verhamme, Peter, Vanassche, Thomas, Scoppettuolo, Pasquale, Wautrecht, Jean-Claude, Jelaković, Bojan, Dika, Zivka, Bruno, Rosa Maria, Taddei, Stefano, Romanini, Caterina, Petrucci, Ilaria, Rabbia, Franco, Di Monaco, Silvia, Rossi, Gian Paolo, Lerco, Silvia, Minuz, Pietro, Mansueto, Giancarlo, De Marchi, Sergio, Marcon, Denise, Kroon, Bram, Spiering, Wilko, van den Born, Bert-Jan, Poch, Esteban, Montagud-Marrahi, Enrique, Molina, Alicia, Guillen, Elena, Burrel, Marta, Wuerzner, Gregor, Mazzolai, Lucia, Buso, Giacomo.

المساهمون: Verstraeten, A, Perik, Mham, Baranowska, Aa, Meester, Jan, Van Den Heuvel, L, Bastianen, J, Kempers, M, Krapels, Ipc, Maas, A, Rideout, A, Vandersteen, A, Sobey, G, Johnson, D, Fransen, E, Ghali, N, Webb, T, Al-Hussaini, A, de Leeuw, P, Delmotte, P, Lopez-Sublet, M, Pappaccogli, M, Sprynger, M, Toubiana, L, European/International Fibromuscular Dysplasia Registry and Initiative, (FEIRI), Van Laer, L, Van Dijk, F, Vikkula, M, Samani, Nj, Persu, A, Adlam, D, Loeys, B, Collaborators of the European/International Fibromuscular Dysplasia Registry and Initiative (FEIRI) Beauloye: Christophe: Chenu, Patrick, Hammer, Frank, Goffette, Pierre, Astarci, Parla, Peeters, André, Verhelst, Robert, Van der Niepen, Patricia, Van Tussenbroek, Frank, De Backer, Tine, Gevaert, Sofie, Hemelsoet, Dimitri, Defreyne, Luc, Heuten, Hilde, Yperzeele, Laetitia, Van der Zijden, Thij, Lengelé, Jean-Philippe, Krzesinski, Jean-Marie, Verhamme, Peter, Vanassche, Thoma, Scoppettuolo, Pasquale, Wautrecht, Jean-Claude, Jelaković, Bojan, Dika, Zivka, Bruno, Rosa Maria, Taddei, Stefano, Romanini, Caterina, Petrucci, Ilaria, Rabbia, Franco, Di Monaco, Silvia, Rossi, Gian Paolo, Lerco, Silvia, Minuz, Pietro, Mansueto, Giancarlo, De Marchi, Sergio, Marcon, Denise, Kroon, Bram, Spiering, Wilko, van den Born, Bert-Jan, Poch, Esteban, Montagud-Marrahi, Enrique, Molina, Alicia, Guillen, Elena, Burrel, Marta, Wuerzner, Gregor, Mazzolai, Lucia, Buso, Giacomo.

مصطلحات موضوعية: Loeys-Dietz syndrome, coronary artery disease, fibromuscular dysplasia, genetics

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32897753; info:eu-repo/semantics/altIdentifier/wos/WOS:000570959700017; volume:142; issue:10; firstpage:1021; lastpage:1024; numberofpages:4; journal:CIRCULATION; http://hdl.handle.net/11562/1024814Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85090704494

الإتاحة: https://doi.org/10.1161/CIRCULATIONAHA.120.045946Test
http://hdl.handle.net/11562/1024814Test

المؤلفون: Minatogawa, M., Unzaki, A., Morisaki, H., Syx, D., Sonoda, T., Janecke, A.R., Slavotinek, A., Voermans, N.C., Lacassie, Y., Mendoza-Londono, R., Wierenga, K.J., Jayakar, P., Gahl, W.A., Tifft, C.J., Figuera, L.E., Hilhorst-Hofstee, Y., Maugeri, A., Ishikawa, K., Kobayashi, T., Aoki, Y., Ohura, T., Kawame, H., Kono, M., Mochida, K., Tokorodani, C., Kikkawa, K., Morisaki, T., Nakane, T., Kubo, A., Ranells, J.D., Migita, O., Sobey, G., Kaur, A., Ishikawa, M., Yamaguchi, T., Matsumoto, N., Malfait, F., Miyake, N., Kosho, T.

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: musculoskeletal diseases, human genetics

وصف الملف: application/pdf

العلاقة: https://jmg.bmj.com/content/jmedgenet/early/2021/12/15/jmedgenet-2020-107623.full.pdfTest; lumc-id: 122668091; https://hdl.handle.net/1887/3270974Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2020-107623Test
https://hdl.handle.net/1887/3270974Test
https://jmg.bmj.com/content/jmedgenet/early/2021/12/15/jmedgenet-2020-107623.full.pdfTest

المؤلفون: Redman, M.G., Wagner, B.E., Cadden, S., Baker, D., Bowen, J.M., Johnson, D., Sobey, G., Balasubramanian, M.

العلاقة: Redman, M.G., Wagner, B.E., Cadden, S. et al. (5 more authors) (2021) Rough endoplasmic reticulum expansion : a consistent finding in a patient cohort with vascular Ehlers-Danlos Syndrome and Osteogenesis Imperfecta. Ultrastructural Pathology, 45 (6). pp. 414-420. ISSN 0191-3123

الإتاحة: https://eprints.whiterose.ac.uk/185794Test/

المؤلفون: Verstraeten, A, Perik, MHAM, Baranowska, AA, Meester, JAN, Van Den Heuvel, L, Bastianen, J, Kempers, M, Krapels, IPC, Maas, A, Rideout, A, Vandersteen, A, Sobey, G, JOHNSON, D, Fransen, E, Ghali, N, Webb, T, Al-Hussaini, A, de Leeuw, P, Delmotte, P, Lopez-Sublet, M, Pappaccogli, M, Sprynger, M, Toubiana, L, European/International Fibromuscular Dysplasia Registry and Initiative, (FEIRI), Van Laer, L, Van Dijk, FS, Vikkula, M, Samani, NJ, Persu, A, Adlam, D, Loeys, B, Collaborators of the European/International Fibromuscular Dysplasia Registry and Initiative, (FEIRI)

المساهمون: Laboratoire d'Informatique Médicale et Ingénierie des Connaissances en e-Santé (LIMICS), Université Paris 13 (UP13)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: Circulation
Circulation, 2020, 142, pp.1021-1024

مصطلحات موضوعية: fibromuscular dysplasia, genetics, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Loeys-Dietz syndrome, coronary artery disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ec0a6139ab8fdbe9d5fd64c7a503eb35Test
https://hal.archives-ouvertes.fr/hal-03467687Test

المؤلفون: T. Barklow A, U. Baur B, F. Cuypers C, S. Dawson D, D. Errede E, S. Errede E, S. Godfrey F, T. Han G, P. Kalyniak F, K. Riles H, T. Rizzo A, R. Sobey G, D. Strom I, R. Szalapski J, B. F. L. Ward K, J. Womersley L, J. Wudka M

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://arxiv.org/pdf/hep-ph/9611454v1.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.344.6842Test; http://arxiv.org/pdf/hep-ph/9611454v1.pdfTest

الإتاحة: http://arxiv.org/pdf/hep-ph/9611454v1.pdfTest