المؤلفون: Crow, YJ, Chase, DS, Schmidt, JL, Szynkiewicz, M, Forte, GMA, Gornall, HL, Oojageer, A, Anderson, B, Pizzino, A, Helman, G, Abdel-Hamid, MS, Abdel-Salam, GM, Ackroyd, S, Aeby, A, Agosta, G, Albin, C, Allon-Shalev, S, Arellano, M, Ariaudo, G, Aswani, V, Babul-Hirji, R, Baildam, EM, Bahi-Buisson, N, Bailey, KM, Barnerias, C, Barth, M, Battini, R, Beresford, MW, Bernard, G, Bianchi, M, de Villemeur, TB, Blair, EM, Bloom, M, Burlina, AB, Carpanelli, ML, Carvalho, DR, Castro-Gago, M, Cavallini, A, Cereda, C, Chandler, KE, Chitayat, DA, Collins, AE, Corcoles, CS, Cordeiro, NJV, Crichiutti, G, Dabydeen, L, Dale, RC, D'Arrigo, S, De Goede, CGEL, De Laet, C, De Waele, LMH, Denzler, I, Desguerre, I, Devriendt, K, Di Rocco, M, Fahey, MC, Fazzi, E, Ferrie, CD, Figueiredo, A, Gener, B, Goizet, C, Gowrinathan, NR, Gowrishankar, K, Hanrahan, D, Isidor, B, Kara, L, Khan, N, King, MD, Kirk, EP, Kumar, R, Lagae, L, Landrieu, P, Lauffer, H, Laugel, V, La Piana, R, Lim, MJ, Lin, JPSM, Linnankivi, T, Mackay, MT, Marom, DR, Lourenco, CM, McKee, SA, Moroni, I, Morton, JEV, Moutard, ML, Murray, K, Nabbout, R, Nampoothiri, S, Nunez-Enamorado, N, Oades, PJ, Olivieri, I, Ostergaard, JR, Perez-Duenas, B, Prendiville, JS, Ramesh, V, Rasmussen, M, Regal, L, Ricci, F, Rio, M, Rodriguez, D, Roubertie, A, Salvatici, E, Segers, KA, Sinha, GP, Soler, D, Spiegel, R, Stodberg, TI, Straussberg, R, Swoboda, KJ, Suri, M, Tacke, U, Tan, TY, Naude, JT, Teik, KW, Thomas, MM, Till, M, Tonduti, D, Valente, EM, Van Coster, RN, van der Knaap, MS, Vassallo, G, Vijzelaar, R, Vogt, J, Wallace, GB, Wassmer, E, Webb, HJ, Whitehouse, WP, Whitney, RN, Zaki, MS, Zuberi, SM, Livingston, JH, Rozenberg, F, Lebon, P, Vanderver, A, Orcesi, S, Rice, GI

المصدر: American journal of medical genetics. Part A. 167(167A):296-312

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130658997

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المؤلفون: Sirota, L., Straussberg, R., Gurary, N., Aloni, D., Bessler, H.

المصدر: European Journal of Pediatrics. October 1999 158(11):910-913

المؤلفون: Straussberg, R., Harel, L., Amir, J.

المصدر: Infection: A Journal of INFECTIOUS Disease. September 2001 29(5):280-282

المؤلفون: Harel, L., Mukamel, M., Amir, J., Straussberg, R., Cohen, A. H., Varsano, I.

المصدر: European Journal of Pediatrics. September 1998 157(10):853-855

المؤلفون: Lee, JYW, Hsu, C-K, Michael, M, Nanda, A, Liu, L, McMillan, Pourreyron, C, Takeichi, T, Tolar, J, Reid, E, Hayday, T, Blumen, SC, Abu-Mouch, S, Straussberg, R, Basel-Vanagaite, L, Barhum, Y, Zouabi, Y, Al-Ajmi, H, Huang, H-Y, Lin, T-C, Akiyama, M, Lee, JYY, McLean, WHI, Simpson, MA, Parsons, M, McGrath, JA

المساهمون: Reid, Evan [0000-0003-1623-7304], Apollo - University of Cambridge Repository

المصدر: Lee, J Y W, Hsu, C K, Michael, M, Nanda, A, Liu, L, McMillan, J R, Pourreyron, C, Takeichi, T, Tolar, J, Reid, E, Hayday, T, Blumen, S C, Abu-Mouch, S, Straussberg, R, Basel-Vanagaite, L, Barhum, Y, Zouabi, Y, Al-Ajmi, H, Huang, H Y, Lin, T C, Akiyama, M, Lee, J Y Y, McLean, W H I, Simpson, M A, Parsons, M & McGrath, J A 2017, ' Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23 ', American Journal of Human Genetics, vol. 100, no. 2, pp. 364-370 . https://doi.org/10.1016/j.ajhg.2017.01.014

مصطلحات موضوعية: Keratinocytes, Male, vitiligo, Genetic Linkage, Apoptosis, Spastic Paraplegia 23, Mice, Young Adult, Asian People, Report, Genetics, Animals, Humans, Genetics(clinical), pigmentation, Amino Acid Sequence, deletion, whole-exome sequencing, hereditary spastic paraplegia, gene, DSTYK, Sequence Deletion, Spastic Paraplegia, Hereditary, Homozygote, Facies, Exons, Fibroblasts, Pedigree, autosomal-recessive, Chromosomes, Human, Pair 1, Genetic Loci, Receptor-Interacting Protein Serine-Threonine Kinases, NIH 3T3 Cells, Melanocytes, Female, mutation, Pigmentation Disorders, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49a4284259470725b7f5834809ad7a7d
https://www.repository.cam.ac.uk/handle/1810/263193

المؤلفون: Salman, H., Bergman, M., Weizman, A., Bessler, H., Weiss, J., Straussberg, R., Djaldetti, M.

المصدر: In Biomedicine & Pharmacotherapy 2000 54(6):311-315

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