Miller–Dieker Syndrome Associated with Congenital Lobar Emphysema

Por Mahgoub, Linda, Aziz, Khalid, Davies, Dawn, Leonard, Norma
Publicado em 2014

Familial Recurrence of Cerebral Palsy with Multiple Risk Factors

Por Richer, Lawrence P., Dower, Nancy A., Leonard, Norma, Chan, Alicia K. J., Robertson, Charlene M. T.
Publicado em 2011

Transmission of the Rare HRAS Mutation (c. 173C > T; p.T58I) Further Illustrates Its Attenuated Phenotype

Por Gripp, Karen W., Hopkins, Elizabeth, Serrano, Alvaro, Leonard, Norma J., Stabley, Deborah L., Sol-Church, Katia
Publicado em 2012

Mutations in the telomere capping complex in bone marrow failure and related syndromes

Por Walne, Amanda J., Bhagat, Tanya, Kirwan, Michael, Gitiaux, Cyril, Desguerre, Isabelle, Leonard, Norma, Nogales, Elena, Vulliamy, Tom, Dokal, Inderjeet S.
Publicado em 2013

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

Por Isrie, Mala, Breuss, Martin, Tian, Guoling, Hansen, Andi Harley, Cristofoli, Francesca, Morandell, Jasmin, Kupchinsky, Zachari A., Sifrim, Alejandro, Rodriguez-Rodriguez, Celia Maria, Dapena, Elena Porta, Doonanco, Kurston, Leonard, Norma, Tinsa, Faten, Moortgat, Stéphanie, Ulucan, Hakan, Koparir, Erkan, Karaca, Ender, Katsanis, Nicholas, Marton, Valeria, Vermeesch, Joris Robert, Davis, Erica E., Cowan, Nicholas J., Keays, David Anthony, Van Esch, Hilde
Publicado no Am J Hum Genet (2015)