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

por Daneman, Denis, Frank, Marcia, Perlman, Kusiel, Wittenberg, Jean
Publicado 1999

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

por 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
Publicado 2013

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

por 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
Publicado 2013

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

por 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.
Publicado 2010