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

gan Daneman, Denis, Frank, Marcia, Perlman, Kusiel, Wittenberg, Jean
Cyhoeddwyd 1999

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

gan 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
Cyhoeddwyd 2013

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

gan 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
Cyhoeddwyd 2013

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

gan 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.
Cyhoeddwyd 2010