Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
closedAccess | | 10-dic-2003 | De novo mutations in monilethrix | Horev, Liran; Djabali, Karima; Green, Jack; Sinclair, Rodney; Martínez Mir, Amalia CSIC ORCID; Ingber, Arieh; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
openAccess | | mar-2002 | Evidence for Extensive Locus Heterogeneity in Naxos Disease | Djabali, Karima; Martínez Mir, Amalia CSIC ORCID; Horev, Liran; Klapholz, Laurent; Glaser, Benjamin; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
openAccess | | 2-mar-2005 | Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata | Chuang, G. S.; Martínez Mir, Amalia CSIC ORCID; Geyer, Adam; Engler, Danielle E.; Glaser, Benjamin; Cserhalmi-Friedman, P. B.; Gordon, Derek; Horev, Liran; Lukash, Barbara; Herman, Eric; Prieto Cid, Manuel; Brenner, Sarah; Landau, Marina; Sprecher, Eli; García Muret, María Pilar; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
openAccess | | oct-2003 | Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine Leiomyomata | Martínez Mir, Amalia CSIC ORCID; Glaser, Benjamin; Chuang, G. S.; Horev, Liran; Waldman, Arie; Engler, Danielle E.; Gordon, Derek; Spelman, Lynda J.; Hatzibougias, Ioannis; Green, Jack; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
openAccess | | dic-2003 | Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24 | Martínez Mir, Amalia CSIC ORCID; Zlotogorski, Abraham; Londono, Douglas; Gordon, Derek; Grunn, A.; Uribe, E.; Horev, Liran; Ruiz, I. M.; Davalos, N. O.; Alayan, O.; Liu, Jianjun; Gilliam, T. Conrad; Salas-Alanis, J. C.; Christiano, Angela M. | artículo |
closedAccess | | jun-2014 | Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratoderma | Furniss, Megan; Higgins, Claire A.; Martínez Mir, Amalia CSIC ORCID; Horev, Liran; Petukhova, Lynn; Stanimirović, Andrija; Miljković, Jovan; Zlotogorski, Abraham; Christiano, Angela M. | artículo |
openAccess | | 28-ene-2003 | Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiency | Horev, Liran; Waran Lalin, T.; Martínez Mir, Amalia CSIC ORCID; Bagheri, B. A.; Tadin-Strapps, M.; Schneiderman, P. I.; Grossman, M. E.; Bickers, D. R.; Christiano, Angela M. | artículo |
openAccess | | 2002 | Multiple Cutaneous and Uterine Leiomyomas: Refinement of the Genetic Locus for Multiple Cutaneous and Uterine Leiomyomas on Chromosome 1q42.3–43 | Martínez Mir, Amalia CSIC ORCID; Gordon, Derek; Horev, Liran; Klapholz, Laurent; Ott, Jurg; Christiano, Angela M.; Zlotogorski, Abraham | artículo |