المؤلفون: Adamo, C. S., Beyens, A., Schiavinato, A., Keene, D. R., Tufa, S. F., Mörgelin, M., Brinckmann, J., Sasaki, T., Niehoff, A., Dreiner, M., Pottie, L., Muiño-Mosquera, L., Gulec, E. Y., Gezdirici, A., Braghetta, P., Bonaldo, P., Wagener, R., Paulsson, M., Bornaun, H., De Rycke, R., De Bruyne, M., Baeke, F., Devine, W. P., Gangaram, B., Tam, A., Balasubramanian, M., Ellard, S., Moore, S., Symoens, S., Shen, J., Cole, S., Schwarze, U., Holmes, K. W., Hayflick, S. J., Wiszniewski, W., Nampoothiri, S., Davis, E. C., Sakai, L. Y., Sengle, G., Callewaert, B.

مصطلحات موضوعية: Humans, Mice, Animals, Cutis Laxa/genetics, Elastin/metabolism, Extracellular Matrix Proteins/metabolism, Collagen/genetics, Bone Diseases, Metabolic, Efemp2, Emilin1, Lox, aortic aneurysm, arterial tortuosity, collagen, cutis laxa, elastic fiber, extracellular matrix, fracture

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(22)00458-X; Am J Hum Genet. 2022 Dec 1;109(12):2230-2252. doi:10.1016/j.ajhg.2022.10.010. Epub 2022 Nov 8.; https://rde.dspace-express.com/handle/11287/622695; American journal of human genetics

الاتاحة: https://doi.org/10.1016/j.ajhg.2022.10.010
https://rde.dspace-express.com/handle/11287/622695

المؤلفون: Antony, D., Yilmaz, E., Gezdirici, A., Slagter, L., Bakey, Z., Bornaun, H., Tanidir, I.C., Dinh, T., Brunner, H.G., Walentek, P., Arnold, S.J., Backofen, R., Schmidts, M.

المصدر: Frontiers in Genetics, 13

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/252030/252030.pdf; https://repository.ubn.ru.nl/handle/2066/252030; https://doi.org/10.3389/fgene.2022.861236

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/252030/252030.pdf
https://repository.ubn.ru.nl/handle/2066/252030
https://doi.org/10.3389/fgene.2022.861236

المؤلفون: Bornaun H., Dedeoğlu, Reyhan, Oztarhan, K., Dedeoğlu, S., Erfidan, E., Gündoğdu, M., Cengiz, Dicle

المساهمون: Bölüm Yok

مصطلحات موضوعية: Beta-Thalassemia, Echocardiography, Ventricular Function, Young Patients

Relation: Iranian Journal of Pediatrics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.5812/ijp.5808; http://hdl.handle.net/11467/3830; 26

الاتاحة: http://hdl.handle.net/11467/3830
https://doi.org/10.5812/ijp.5808

المؤلفون: Fatkin, D, Lam, L, Herman, DS, Benson, CC, Felkin, LE, Barton, PJR, Walsh, R, Candan, S, Ware, JS, Roberts, AM, Chung, WK, Smoot, L, Bornaun, H, Keogh, AM, Macdonald, PS, Hayward, CS, Seidman, JG, Roberts, AE, Cook, SA, Seidman, CE

المساهمون: British Heart Foundation, Heart Research UK, Fondation Leducq

المصدر: 45 ; 41

مصطلحات موضوعية: Cardiovascular System & Hematology

Relation: Progress in Pediatric Cardiology; http://hdl.handle.net/10044/1/39013; http://dx.doi.org/10.1016/j.ppedcard.2016.01.003; SP/10/10/28431; RG2596/11/13; 11 CVD-01

الاتاحة: http://hdl.handle.net/10044/1/39013
https://doi.org/10.1016/j.ppedcard.2016.01.003

المؤلفون: Beyens, Aude, Adamo, C., Gulec, E. Yilmaz, Gezdirici, A., Bonaldo, P., Bornaun, H., Brauchle, E., Brinckmann, J., Devine, W. P., Gangaram, B., Sasaki, T., Schenkelayland, K., Symoens, Sofie, Tam, A., Sengle, G., Callewaert, Bert

المصدر: EUROPEAN JOURNAL OF HUMAN GENETICS ; ISSN: 1018-4813 ; ISSN: 1476-5438

مصطلحات موضوعية: Medicine and Health Sciences, Genetics(clinical), Genetics

وصف الملف: application/pdf

Relation: https://biblio.ugent.be/publication/8697121; http://hdl.handle.net/1854/LU-8697121; https://biblio.ugent.be/publication/8697121/file/8708419

الاتاحة: https://biblio.ugent.be/publication/8697121
http://hdl.handle.net/1854/LU-8697121
https://biblio.ugent.be/publication/8697121/file/8708419

المؤلفون: AYAZ, Neşe, SEN, HS, AKDANA, B, Tugcu, Deniz, AYDOGAN, Gülcan, AKCAY, A, SALCIOGLU, Z, ÖZTARHAN, K, BORNAUN, H, AKICI, F

المساهمون: 180783

Relation: International journal of hematology; AKCAY A., SALCIOGLU Z., ÖZTARHAN K., Tugcu D., AYDOGAN G., AYAZ N., BORNAUN H., SEN H., AKICI F., AKDANA B., "Cardiac T2* MRI assessment in patients with thalassaemia major and its effect on the preference of chelation therapy.", International journal of hematology, cilt.99, ss.706-13, 2014; vv_1032021; av_9a502e9b-e1dc-4d1d-9ec1-82ba32b4a05f; http://hdl.handle.net/20.500.12627/103742; https://doi.org/10.1007/s12185-014-1575-1; 99; 706; 13

الاتاحة: https://hdl.handle.net/20.500.12627/103742
https://doi.org/10.1007/s12185-014-1575-1

المؤلفون: Beyens, A., Adamo, C., Gulec, E. Yilmaz, Gezdirici, A., Bonaldo, P., Bornaun, H., Brauchle, E., Brinckmann, J., Devine, W. P., Gangaram, B., Sasaki, T., Schenke-Layland, K., Symoens, S., Tam, A., Sengle, G., Callewaert, B.

مصطلحات موضوعية: ddc:no

Relation: Beyens, A., Adamo, C., Gulec, E. Yilmaz, Gezdirici, A., Bonaldo, P., Bornaun, H., Brauchle, E., Brinckmann, J., Devine, W. P., Gangaram, B., Sasaki, T., Schenke-Layland, K., Symoens, S., Tam, A., Sengle, G. and Callewaert, B. (2020). Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 132 - 134. LONDON: SPRINGERNATURE. ISSN 1476-5438

الاتاحة: https://kups.ub.uni-koeln.de/30898/

المؤلفون: Corbacioglu Esmer, A., Bornaun, H.

المصدر: Ultrasound in Obstetrics & Gynecology ; volume 50, issue S1, page 280-280 ; ISSN 0960-7692 1469-0705

الاتاحة: http://dx.doi.org/10.1002/uog.18391
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fuog.18391
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/uog.18391

المؤلفون: Gonca Keskindemirci, Aktay-Ayaz, N., Melikoğlu, N., Bornaun, H., Aydoğmuş, Ç, Aldemir, E., Aydoğan, G.

المساهمون: Ege Üniversitesi

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Pediatri

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5548306b736cf6b06ac8ea07f404aca6
https://hdl.handle.net/11454/65490