Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

Por Burdon, Kathryn P., McKay, James D., Sale, Michèle M., Russell-Eggitt, Isabelle M., Mackey, David A., Wirth, M. Gabriela, Elder, James E., Nicoll, Alan, Clarke, Michael P., FitzGerald, Liesel M., Stankovich, James M., Shaw, Marie A., Sharma, Shiwani, Gajovic, Srecko, Gruss, Peter, Ross, Shelley, Thomas, Paul, Voss, Anne K., Thomas, Tim, Gécz, Jozef, Craig, Jamie E.
Publicado em 2003

HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study

Por Friez, Michael J, Brooks, Susan Sklower, Stevenson, Roger E, Field, Michael, Basehore, Monica J, Adès, Lesley C, Sebold, Courtney, McGee, Stephen, Saxon, Samantha, Skinner, Cindy, Craig, Maria E, Murray, Lucy, Simensen, Richard J, Yap, Ying Yzu, Shaw, Marie A, Gardner, Alison, Corbett, Mark, Kumar, Raman, Bosshard, Matthias, van Loon, Barbara, Tarpey, Patrick S, Abidi, Fatima, Gecz, Jozef, Schwartz, Charles E
Publicado no BMJ Open (2016)