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Material Type: Artigo
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Angiotensin I converting enzyme and angiotensinogen gene polymorphisms related to 24-h blood pressure in paediatric type I diabetes mellitusPAVLOVIC, M ; HOLL, R. W ; HAEBERLE, U ; SCHWARZ, K ; HEINZE, E ; DEBATIN, K.-M ; LANG, DEuropean journal of pediatrics, 1999, Vol.158 (1), p.18-23 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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Material Type: Artigo
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Bone resorption in syndromes of the Ras/MAPK pathwayStevenson, DA ; Schwarz, EL ; Carey, JC ; Viskochil, DH ; Hanson, H ; Bauer, S ; Cindy Weng, H-Y ; Greene, T ; Reinker, K ; Swensen, J ; Chan, RJ ; Yang, F-C ; Senbanjo, L ; Yang, Z ; Mao, R ; Pasquali, MClinical genetics, 2011-12, Vol.80 (6), p.566-573 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Central laboratory reassessment of IGF-I, IGF-binding protein-3, and GH serum concentrations measured at local treatment centers in growth-impaired children: implications for the agreement between outpatient screening and the results of somatotropic axis functional testingHauffa, Berthold P ; Lehmann, Nils ; Bettendorf, Markus ; Mehls, Otto ; Dörr, Helmuth-Günther ; Stahnke, Nikolaus ; Steinkamp, Heinz ; Said, Elfriede ; Ranke, Michael BEuropean journal of endocrinology, 2007-11, Vol.157 (5), p.597-603 [Periódico revisado por pares]Colchester: BioScientificaTexto completo disponível |
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Material Type: Artigo
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Central reassessment of GH concentrations measured at local treatment centers in children with impaired growth: consequences for patient managementHauffa, BP ; Lehmann, N ; Bettendorf, M ; Mehls, O ; Dorr, HG ; Partsch, CJ ; Schwarz, HP ; Stahnke, N ; Steinkamp, H ; Said, E ; Sander, S ; Ranke, MBEuropean journal of endocrinology, 2004-03, Vol.150 (3), p.291-297 [Periódico revisado por pares]Colchester: European Society of EndocrinologyTexto completo disponível |
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Material Type: Artigo
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Cerebral haemorrhage in long-term survivors of childhood acute lymphoblastic leukaemiaHUMPL, T ; BRÜHL, K ; BOHL, J ; SCHWARZ, M ; STOETER, P ; GUTJAHR, PEuropean journal of pediatrics, 1997-05, Vol.156 (5), p.367-370 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children : impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junctionBRÜHL, Klaus ; STOETER, Peter ; WIETEK, Beate ; SCHWARZ, Manfred ; HUMPL, Tilman ; SCHUMACHER, Reinhard ; SPRANGER, JürgenEuropean journal of pediatrics, 2001, Vol.160 (1), p.10-20 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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Material Type: Artigo
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Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene : a cystic fibrosis mutation of slavic origin common in Central and East EuropeDÖRK, T ; MACEK, M. JR ; ZEMKOVA, D ; GINTER, E ; PETROVA, N. V ; IVASCHENKO, T ; BARANOV, V ; WITT, M ; POGORZELSKI, A ; BAL, J ; ZEKANOWSKY, C ; WAGNER, K ; MEKUS, F ; STUHRMANN, M ; BAUER, I ; SEYDEWITZ, H. H ; NEUMANN, T ; JAKUBICZKA, S ; KRAUS, C ; THAMM, B ; NECHIPORENKO, M ; LIVSHITS, L ; MOSSE, N ; TÜMMLER, B ; TSUKERMAN, G ; KADASI, L ; RAVNIK-GLAVAC, M ; GLAVAC, D ; KOMEL, R ; VOUK, K ; KUCINSKAS, V ; KRUMINA, A ; TEDER, M ; KOCHEVA, S ; TZOUNTZOURIS, J ; EFREMOV, G. D ; ONAY, T ; KIRDAR, B ; MALONE, G ; SCHWARZ, M ; ZHAOQING ZHOU ; FRIEDMAN, K. J ; CARLES, S ; CLAUSTRES, M ; BOZON, D ; CASALS, T ; VERLINGUE, C ; FEREC, C ; TZETIS, M ; KANAVAKIS, E ; CUPPENS, H ; BOMBIERI, C ; PIGNATTI, P. F ; SANGIUOLO, F ; JORDANOVA, A ; KUSIC, J ; KREBSOVA, A ; KOUDOVA, M ; SAKMARYOVA, I. SR ; VAVROVA, VHuman genetics, 2000-03, Vol.106 (3), p.259-268 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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Material Type: Artigo
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Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observationHeimpel, Hermann ; Schwarz, Klaus ; Ebnöther, Monika ; Goede, Jeroen S. ; Heydrich, Detlev ; Kamp, Torsten ; Plaumann, Lothar ; Rath, Bettina ; Roessler, Jochen ; Schildknecht, Otto ; Schmid, Mathias ; Wuillemin, Walter ; Einsiedler, Beate ; Leichtle, Rosi ; Tamary, Hannah ; Kohne, ElisabethBlood, 2006-01, Vol.107 (1), p.334-340 [Periódico revisado por pares]Washington, DC: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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CYP11B1 mutations causing congenital adrenal hyperplasia due to 11β-hydroxylase deficiencyGELEY, S ; KAPLERAI, K ; KOFLER, R ; JÖHRER, K ; PETER, M ; GLATZL, J ; VIERHAPPER, H ; SCHWARZ, S ; HELMBERG, A ; SIPPELL, W. G ; WHITE, P. CThe journal of clinical endocrinology and metabolism, 1996-08, Vol.81 (8), p.2896-2901 [Periódico revisado por pares]Bethesda, MD: Endocrine SocietyTexto completo disponível |
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Material Type: Artigo
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Definition of a critical T cell threshold for prevention of GVHD after HLA non-identical PBPC transplantation in childrenMÜLLER, S ; SCHULZ, A ; REISS, U ; SCHWARZ, K ; SCHREINER, T ; WIESNETH, M ; DEBATIN, K.-M ; FRIEDRICH, WBone marrow transplantation (Basingstoke), 1999-09, Vol.24 (6), p.575-581 [Periódico revisado por pares]Basingstoke: Nature Publishing GroupTexto completo disponível |