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A restricted spectrum of NRAS mutations causes Noonan syndrome |
Authors: Cirstea, Ion C.; Kutsche, Kerstin; Dvorsky, Radovan; Gremer, Lothar; Carta, Claudio; Horn, Denise; Roberts, Amy E.; Lepri, Francesca; Merbitz-Zahradnik, Torsten; König, Rainer; Kratz, Christian P.; Pantaleoni, Francesca; Dentici, Maria L.; Joshi, Victoria A.; Kucherlapati, Raju S.; Mazzanti, Laura; Mundlos, Stefan; Patton, Michael A.; Silengo, Margherita Cirillo; Rossi, Cesare; Zampino, Giuseppe; Digilio, Cristina; Stuppia, Liborio; Seemanova, Eva; Pennacchio, Len A.; Gelb, Bruce D.; Dallapiccola, Bruno; Wittinghofer, Alfred; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin | Date of Publication (YYYY-MM-DD): 2010-01 | Title of Journal: Nature Genetics | Volume: 42 | Issue / Number: 1 | Start Page: 27 | End Page: 29 | Sequence Number of Article: 1 | Document Type: Article | ID: 442399.0 |
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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius |
Authors: Klopocki, Eva; Schulze, Harald; Strauß, Gabriele; Ott, Claus-Eric; Hall, Judith; Trotier, Fabienne; Fleischhauer, Silke; Greenhalgh, Lynn; Newbury-Ecob, Ruth A.; Neumann, Luitgard M.; Habenicht, Rolf; König, Rainer; Seemanova, Eva; Megarbane, André; Ropers, Hans-Hilger; Ullmann, Reinhard; Mundlos, Stefan | Date of Publication (YYYY-MM-DD): 2007-02-01 | Title of Journal: American Journal of Human Genetics : AJHG / American Society of Human Genetics | Volume: 80 | Issue / Number: 2 | Start Page: 232 | End Page: 240 | Document Type: Article | ID: 334122.0 |
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Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. |
Authors: Zenker, Martin; Lehmann, Katarina; Schulz, Anna Leana; Barth, Helmut; Hansmann, Dagmar; Koenig, Rainer; Korinthenberg, Rudolf; Kreiss-Nachtsheim, Martina; Meinecke, Peter; Morlot, Susanne; Mundlos, Stefan; Quante, Anne S.; Raskin, Salmo; Schnabel, Dirk; Wehner, Lars-Erik; Kratz, Christian P.; Horn, Denise; Kutsche, Kerstin | Date of Publication (YYYY-MM-DD): 2007-02-01 | Title of Journal: Journal of Medical Genetics | Volume: 44 | Issue / Number: 2 | Start Page: 131 | End Page: 135 | Document Type: Article | ID: 335005.0 |
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Gene-expression based classification of neuroblastoma patients using a customized oligonucleotide-microarray outperforms current clinical risk stratification |
Authors: Oberthuer, André; Berthold, Frank; Warnat, Patrick; Hero, Barbara; Kahlert, Yvonne; Spitz, Rüdiger; Ernestus, Karen; König, Rainer; Haas, Stefan; Eils, Roland; Schwab, Manfred; Brors, Benedikt; Westermann, Frank; Fischer, Matthias | Date of Publication (YYYY-MM-DD): 2006-11-01 | Title of Journal: Journal of Clinical Oncology : Jco ; Official Journal of the American Society of Clinical Oncology | Volume: 24 | Issue / Number: 31 | Start Page: 5070 | End Page: 5078 | Document Type: Article | ID: 311244.0 |
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