Oncotator: Cancer Variant Annotation ToolHuman Mutation - Tập 36 Số 4 - Trang E2423-E2429 - 2015
Alex H. Ramos, Lee Lichtenstein, Manaswi Gupta, Michael S. Lawrence, Trevor J. Pugh, Gordon Saksena, Matthew Meyerson, Gad Getz
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10Human Mutation - Tập 32 Số 1 - Trang 51-58 - 2011
Karin Frank‐Raue, Lisa Rybicki, Zoran Erlic, Heiko Schweizer, Aurelia Winter, Ioana Milos, S. P. A. Toledo, Rodrigo A. Toledo, Marcos Roberto Tavares, Maria Alevizaki, Caterina Mian, Heide Siggelkow, M. Hüfner, Nelson Wohllk, Giuseppe Opocher, Šárka Dvořáková, Běla Bendlová, Małgorzata Czetwertyńska, E. Skasko, Marta Barontini, Gabriela Sansó, Christian Vorländer, Ana Luiza Maia, Attila Patócs, Thera P. Links, Jan Willem de Groot, Michiel N. Kerstens, Gerlof D. Valk, Hamid Irannejad, Thomas J. Musholt, Josefina Biarnés, Svetozar Damjanović, Mihaela Mureşan, Christian Wüster, Martin Faßnacht, Mariola Pęczkowska, Christine Fauth, Henriette Golcher, Martin A. Walter, J Pichl, Friedhelm Raue, Charis Eng, Hartmut P.H. Neumann
KCNJ11activating mutations in Italian patients with permanent neonatal diabetesHuman Mutation - Tập 25 Số 1 - Trang 22-27 - 2005
Ornella Massa, Dario Iafusco, Elena D’Amato, Anna L. Gloyn, Andrew T. Hattersley, B Pasquino, Giuseppe Tonini, F Dammacco, Giorgio Zanette, Franco Meschi, Ottavia Porzio, G F Bottazzo, Antonino Crinò, Renata Lorini, Fránco Cerutti, Maurizio Vanelli, Fabrizio Barbetti