Parental origin of apparently balanced de novo complex chromosomal rearrangements investigated by microdissection, whole genome amplification, and microsatellite-mediated haplotype... von Grossmann, V, Höckner, M, Karmous-Benailly, H, Liang, D, Puttinger, R, Quadrelli, R, Röthlisberger, B, Huber, A, Wu, L, Spreiz, A, Fauth, C, Erdel, M, Zschocke, J, Utermann, G, Kotzot, D

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Identification of eight novel NSD1 mutations in Sotos syndrome von Kamimura, J, Endo, Y, Kurotaki, N, Kinoshita, A, Miyake, N, Shimokawa, O, Harada, N, Visser, R, Ohashi, H, Miyakawa, K, Gerritsen, J, Innes, A M, Lagace, L, Frydman, M, Okamoto, N, Puttinger, R, Raskin, S, Resic, B, Culic, V, Yoshiura, K, Ohta, T, Kishino, T, Ishikawa, M, Niikawa, N, Matsumoto, N

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Hypohomocysteinaemia and highly increased proportion of S‐sulfonated plasma transthyretin in molybdenum cofactor deficiency von Sass, J. O., Kishikawa, M., Puttinger, R., Reiss, J., Erwa, W., Shimizu, A., Sperl, W.

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Importance of Genetic Diagnosis of DAX-1 Deficiency: Example from a Large, Multigenerational Family von Ostermann, Sandrine, Salvi, Roberto, Lang-Muritano, Mariarosaria, Voirol, Marie-Jeanne, Puttinger, Rudolf, Gaillard, Rolf C., Schoenle, Eugen, Pralong, François P.

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Fatal arthrogryposis with respiratory insufficiency: A possible case of muscle phosphorylase b‐kinase deficiency von Shin, Y. S., Plöchl, E., Podskarbi, T., Muss, W., Pilz, P., Puttinger, R.

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Is Screening of the Candidate Gene Necessary in Unrelated Partners of Members of Families with Herlitz Junctional Epidermolysis Bullosa? von Klausegger, Alfred, Pohla-Gubo, Gabriele, Dallinger, Günter, Hintner, Helmut, Bauer, Johann W., Pulkkinen, Leena, Puttinger, Rudolf, Uitto, Jouni

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Clinical utility of (18 f)-fluoroflumazenil pet in presurgical evaluation of refractory focal epilepsy von Schwarz, G, Pichler, R, Hamberger, M, Puttinger, G, Schnizer, M, Trenkler, J, Wurm, G, von Oertzen, T.J

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Ist der Ausschluss eines Korpuskarzinoms mittels HE4-Bestimmung möglich von Puttinger, C, Haslinger, R, Kriegshäuser, G, Enzelsberger, H

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Regression of hypertensive nephropathy during three years of optimal blood pressure control von Puttinger, Heidi, Soleiman, Afschin, Oberbauer, Rainer

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Fetale, sonomorphologische Aspekte des Prader-Willi-Syndromes von Hundegger, R, Mayer, G, Puttinger, C, Enzelsberger, H

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