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Results: 1-7 |
Results: 7
Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency
Authors: Plochl, W Plochl, E Pokorny, H Kozek-Langenecker, S Zacherl, J Stockler-Ipsiroglu, S Wermuth, B Spiss, CK Muhlbacher, F
Citation: W. Plochl et al., Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency, TRANSPLAN I, 14(3), 2001, pp. 196-201
Variants of inborn errors of metabolism with late onset but nevertheless life threatening course
Authors: Plochl, E Plochl, W Wermuth, B Roscher, AA
Citation: E. Plochl et al., Variants of inborn errors of metabolism with late onset but nevertheless life threatening course, KLIN PADIAT, 213(5), 2001, pp. 261-265
Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III
Authors: Ludecke, HJ Schaper, J Meinecke, P Momeni, P Gross, S von Holtum, D Hirche, H Abramowicz, MJ Albrecht, B Apacik, C Christen, HJ Claussen, U Devriendt, K Fastnacht, E Forderer, A Friedrich, U Goodship, THJ Greiwe, M Hamm, H Hennekam, RCM Hinkel, GK Hoeltzenbein, M Kayserili, H Majewski, F Mathieu, M McLeod, R Midro, AT Moog, U Nagai, T Niikawa, N Orstavik, KH Plochl, E Seitz, C Schmidtke, J Tranebjaerg, L Tsukahara, M Wittwer, B Zabel, B Gillessen-Kaesbach, G Horsthemke, B
Citation: Hj. Ludecke et al., Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III, AM J HU GEN, 68(1), 2001, pp. 81-91
Clinical, cytogenetic and molecular analysis of three 46,XX males
Authors: Plochl, E Vlasak, I Rittinger, O Bergendi, E Stopar, M Kurnik, P Nachtigall, M Zierler, H Rappold, GA Schiebel, K
Citation: E. Plochl et al., Clinical, cytogenetic and molecular analysis of three 46,XX males, J PED END M, 12(3), 1999, pp. 389-395
Glutaric aciduria type I: ultrasonographic demonstration of early signs
Authors: Forstner, R Hoffmann, GF Gassner, I Heideman, P De Klerk, JBC Lawrenz-Wolf, B Doringer, E Weiss-Wichert, P Troger, J Colombo, JP Plochl, E
Citation: R. Forstner et al., Glutaric aciduria type I: ultrasonographic demonstration of early signs, PEDIAT RAD, 29(2), 1999, pp. 138-143
Screening of patients with Turner Syndrome for "hidden" Y-mosaicism
Authors: Vlasak, I Plochl, E Kronberger, G Bergendi, E Rittinger, O Hagemann, M Schmitt, K Blumel, P Glatzl, J Fekete, G Kadrnka-Lovrencic, M Borkenstein, M Hausler, G Frisch, H
Citation: I. Vlasak et al., Screening of patients with Turner Syndrome for "hidden" Y-mosaicism, KLIN PADIAT, 211(1), 1999, pp. 30-34
Death after transplantation of a liver from a donor with unrecognized ornithine transcarbamylase deficiency
Authors: Plochl, W Spiss, CK Plochl, E
Citation: W. Plochl et al., Death after transplantation of a liver from a donor with unrecognized ornithine transcarbamylase deficiency, N ENG J MED, 341(12), 1999, pp. 921-922
Risultati: 1-7 |