The infant and toddler with diabetes: Challenges of diagnosis and management

著者: Daneman, Denis, Frank, Marcia, Perlman, Kusiel, Wittenberg, Jean
出版事項 1999

From diarrhea to obesity in prohormone convertase 1/3 deficiency – Age dependent clinical, pathological and enteroendocrine characteristics

著者: Bandsma, Robert, Sokollik, Christiane, Chami, Rose, Cutz, Ernest, Brubaker, Patricia L., Hamilton, Jill K., Perlman, Kusiel, Zlotkin, Stanley, Sigalet, David L., Sherman, Philip M., Martin, Martin G., Avitzur, Yaron
出版事項 2013

Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

著者: Pazienza, Valerio, la Torre, Annamaria, Baorda, Filomena, Alfarano, Michela, Chetta, Massimiliano, Muscarella, Lucia Anna, Battista, Claudia, Copetti, Massimiliano, Kotzot, Dieter, Kapelari, Klaus, Al-Abdulrazzaq, Dalia, Perlman, Kusiel, Sochett, Etienne, Cole, David E. C., Pellegrini, Fabio, Canaff, Lucie, Hendy, Geoffrey N., D’Agruma, Leonardo, Zelante, Leopoldo, Carella, Massimo, Scillitani, Alfredo, Guarnieri, Vito
出版事項 2013

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

著者: Garin, Intza, Edghill, Emma L., Akerman, Ildem, Rubio-Cabezas, Oscar, Rica, Itxaso, Locke, Jonathan M., Maestro, Miguel Angel, Alshaikh, Adnan, Bundak, Ruveyde, del Castillo, Gabriel, Deeb, Asma, Deiss, Dorothee, Fernandez, Juan M., Godbole, Koumudi, Hussain, Khalid, O’Connell, Michele, Klupa, Thomasz, Kolouskova, Stanislava, Mohsin, Fauzia, Perlman, Kusiel, Sumnik, Zdenek, Rial, Jose M., Ugarte, Estibaliz, Vasanthi, Thiruvengadam, Johnstone, Karen, Flanagan, Sarah E., Martínez, Rosa, Castaño, Carlos, Patch, Ann-Marie, Fernández-Rebollo, Eduardo, Raile, Klemens, Morgan, Noel, Harries, Lorna W., Castaño, Luis, Ellard, Sian, Ferrer, Jorge, de Nanclares, Guiomar Perez, Hattersley, Andrew T.
出版事項 2010