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1دورية أكاديمية
المؤلفون: Jones, SA, Parini, R, Harmatz, P, Giugliani, R, Fang, JZ, Mendelsohn, NJ
المصدر: Molecular genetics and metabolism. 109(1):41-48
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Giugliani, R, Harmatz, P, Jones, SA, Mendelsohn, NJ, Vellodi, A, Qiu, Y, Hendriksz, CJ, Vijayaraghavan, S, Whiteman, DAH, Pano, A
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Neutralizing antibodies, Idursulfase, Hunter syndrome, Enzyme replacement therapy, Cognitive impairment, Immunogenicity, Glycosaminoglycans, Biochemistry and Cell Biology, Genetics, Clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/2136m33dTest
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3دورية أكاديمية
المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM
المصدر: Genome biology. 15(3):R53
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Mendelsohn, NJ, Harmatz, P, Bodamer, O, Burton, BK, Giugliani, R, Jones, SA, Lampe, C, Malm, G, Steiner, RD, Parini, R
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 12(12):816-822
مصطلحات موضوعية: Medicin och hälsovetenskap
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5
المؤلفون: Hemati, P, Revah-Politi, A, Bassan, H, Petrovski, S, Bilancia, CG, Ramsey, K, Griffin, NG, Bier, L, Cho, MT, Rosello, M, Lynch, SA, Colombo, S, Weber, A, Haug, M, Heinzen, EL, Sands, TT, Narayanan, V, Primiano, M, Aggarwal, VS, Millan, F, Sattler-Holtrop, SG, Caro-Llopis, A, Pillar, N, Baker, J, Freedman, R, Kroes, HY, Sacharow, S, Stong, N, Lapunzina, P, Schneider, MC, Mendelsohn, NJ, Singleton, A, Ramey, VL, Wou, K, Kuzminsky, A, Monfort, S, Weiss, M, Doyle, S, Iglesias, A, Martinez, F, Mckenzie, F, Orellana, C, van Gassen, KLI, Palomares, M, Bazak, L, Lee, A, Bircher, A, Basel-Vanagaite, L, Hafstrom, M, Houge, G, Goldstein, DB, Anyane-Yeboa, K, C4RCD Res Grp, DDD Study
المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: mastocytosis, developmental disabilities, hypotonia, GNB1, seizures, whole exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::486bbe5121f9c60837d0c3c89ca039a5Test
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=10064Test -
6دورية أكاديمية
المؤلفون: Cohn, DH, Chung, BHY, Mendelsohn, NJ, Fernandez, B, Zhang, W, Alkuraya, FS, Dobyns, WB, Curry, CJ, Aldinger, KA
العلاقة: Journal of Medical Genetics; Journal of Medical Genetics, 2015; 256455; http://hdl.handle.net/10722/221903Test
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7دورية أكاديمية
المؤلفون: MENDELSOHN NJ, HARMATZ P, BODAMER O, BURTON BK, GIUGLIANI R, JONES SA, LAMPE C, MALM G, STEINER RD, PARINI R, SCARPA, MAURIZIO
المساهمون: Mendelsohn, Nj, Harmatz, P, Bodamer, O, Burton, Bk, Giugliani, R, Jones, Sa, Lampe, C, Malm, G, Steiner, Rd, Parini, R, Scarpa, Maurizio
العلاقة: volume:12; firstpage:816; lastpage:822; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11577/2427696Test
النص الكامل