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

по Daneman, Denis, Frank, Marcia, Perlman, Kusiel, Wittenberg, Jean
Опубликовано 1999

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

по 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
Опубликовано 2013

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

по 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
Опубликовано 2013

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

по 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.
Опубликовано 2010