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Browsing by Author Horev, Liran

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Showing results 1 to 8 of 8
RightsPreviewIssue DateTitleAuthor(s)Type
closedAccess10-Dec-2003De novo mutations in monilethrixHorev, Liran; Djabali, Karima; Green, Jack; Sinclair, Rodney; Martínez Mir, Amalia ; Ingber, Arieh; Christiano, Angela M.; Zlotogorski, Abrahamartículo
openAccessEvidence_2002.pdf.jpgMar-2002Evidence for Extensive Locus Heterogeneity in Naxos DiseaseDjabali, Karima; Martínez Mir, Amalia ; Horev, Liran; Klapholz, Laurent; Glaser, Benjamin; Christiano, Angela M.; Zlotogorski, Abrahamartículo
openAccessAMM_J Am Acad Dermatol 52(3 Pt1) 410-416 (2005) PMID 15761418.pdf.jpg2-Mar-2005Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomataChuang, G. S.; Martínez Mir, Amalia ; 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, Abrahamartículo
openAccessGermline_2003.pdf.jpgOct-2003Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine LeiomyomataMartínez Mir, Amalia ; 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, Abrahamartículo
openAccessAMM_ J Med Genet 40(12) 872-878 (2003) PMID 14684683.pdf.jpgDec-2003Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24Martínez Mir, Amalia ; 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
closedAccessaccesoRestringido.pdf.jpgJun-2014Identification of distinct mutations in AAGAB in families with type 1 punctate palmoplantar keratodermaFurniss, Megan; Higgins, Claire A.; Martínez Mir, Amalia ; Horev, Liran; Petukhova, Lynn; Stanimirović, Andrija; Miljković, Jovan; Zlotogorski, Abraham; Christiano, Angela M.artículo
openAccessAMM_ Clin Exp Dermatol 28(1) 80-84 (2003) PMID 12558638.pdf.jpg28-Jan-2003Identification of mutations in the COL7A1 gene in a proband with mild recessive dystrophic epidermolysis bullosa and aortic insufficiencyHorev, Liran; Waran Lalin, T.; Martínez Mir, Amalia ; Bagheri, B. A.; Tadin-Strapps, M.; Schneiderman, P. I.; Grossman, M. E.; Bickers, D. R.; Christiano, Angela M.artículo
openAccessMultiple_2002.pdf.jpg2002Multiple Cutaneous and Uterine Leiomyomas: Refinement of the Genetic Locus for Multiple Cutaneous and Uterine Leiomyomas on Chromosome 1q42.3–43Martínez Mir, Amalia ; Gordon, Derek; Horev, Liran; Klapholz, Laurent; Ott, Jurg; Christiano, Angela M.; Zlotogorski, Abrahamartículo