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Entries: 1-3  
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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
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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Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome
Authors: Bartsch, Oliver; Rasi, Sasan; Delicado, Alicia; Dyack, Sarah; Neumann, Luitgard M.; Seemanová, Eva; Volleth, Marianne; Haaf, Thomas; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2006-06-17
Title of Journal: Human Genetics
Volume: 120
Issue / Number: 3
Start Page: 179
End Page: 186
Document Type: Article
ID: 307322.0
 
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Entries: 1-3  
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