المؤلفون: Adamo, Christin S, Beyens, Aude, Schiavinato, Alvise, Keene, Douglas R, Tufa, Sara F, Mörgelin, Matthias, Brinckmann, Jürgen, Sasaki, Takako, Niehoff, Anja, Dreiner, Maren, Pottie, Lore, Muiño-Mosquera, Laura, Gulec, Elif Yilmaz, Gezdirici, Alper, Braghetta, Paola, Bonaldo, Paolo, Wagener, Raimund, Paulsson, Mats, Bornaun, Helen, De Rycke, Riet, De Bruyne, Michiel, Baeke, Femke, Devine, Walter P, Gangaram, Balram, Tam, Allison, Balasubramanian, Meena, Ellard, Sian, Moore, Sandra, Symoens, Sofie, Shen, Joseph, Cole, Stacey, Schwarze, Ulrike, Holmes, Kathryn W, Hayflick, Susan J, Wiszniewski, Wojciech, Nampoothiri, Sheela, Davis, Elaine C, Sakai, Lynn Y, Sengle, Gerhard, Callewaert, Bert

المصدر: American journal of human genetics. 109(12)

مصطلحات موضوعية: Animals, Humans, Mice, Bone Diseases, Metabolic, Cutis Laxa, Collagen, Elastin, Extracellular Matrix Proteins, EFEMP2, EMILIN1, LOX, aortic aneurysm, arterial tortuosity, collagen, cutis laxa, elastic fiber, extracellular matrix, fracture, Rare Diseases, Pediatric, Congenital Structural Anomalies, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Underpinning research, Aetiology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8mv0r3gxTest

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

العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297Test(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/11287/622695Test; American journal of human genetics

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

المؤلفون: Abbonante V., Gruppi C., Battiston M., Zulian A., Di Buduo C. A., Chrisam M., Sereni L., Laurent P. -A., Semplicini C., Lombardi E., Mazzucato M., Moccia F., Petronilli V., Villa A., Bello L., Pegoraro E., Bernardi P., Braghetta P., De Marco L., Bonaldo P., Balduini A.

المساهمون: Abbonante, V., Gruppi, C., Battiston, M., Zulian, A., Di Buduo, C. A., Chrisam, M., Sereni, L., Laurent, P. -A., Semplicini, C., Lombardi, E., Mazzucato, M., Moccia, F., Petronilli, V., Villa, A., Bello, L., Pegoraro, E., Bernardi, P., Braghetta, P., De Marco, L., Bonaldo, P., Balduini, A.

مصطلحات موضوعية: Animal, Collagen, Human, Megakaryocyte, Mice, ORAI1 Protein, Blood Platelet, Calcium Signaling

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34547769; info:eu-repo/semantics/altIdentifier/wos/WOS:000733368000017; volume:5; issue:23; firstpage:5150; lastpage:5163; numberofpages:14; journal:BLOOD ADVANCES; http://hdl.handle.net/11577/3411584Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121668600

الإتاحة: https://doi.org/10.1182/bloodadvances.2020002671Test
http://hdl.handle.net/11577/3411584Test