Mostrando resultados 19 a 38 de 75
< Anterior
Siguiente >
Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 2003 | Basic principles of Genetics | Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M. | capítulo de libro |
closedAccess | | 6-nov-2001 | Characterization of the amphioxus presenilin gene in a high gene-density genomic region illustrates duplication during the vertebrate lineage | Martínez Mir, Amalia CSIC ORCID; Cañestro, Cristian; González-Duarte, Roser; Albalat, Ricard | artículo |
openAccess | | ene-2014 | Clinical and molecular study of the extracellular matrix protein 1 gene in a spanish family with lipoid proteinosis | Mondéjar, Rufino; García-Moreno, José Manuel; Rubio, Rocío; Solano, Francisca; Delgado-Valverde, Mercedes CSIC ORCID; García-Bravo, Begoña; Ríos-Martín, Juan José; Martínez Mir, Amalia CSIC ORCID; Lucas, Miguel | artículo |
openAccess | | dic-2003 | Clinical and Pathologic Correlations in Genetically Distinct Forms of Atrichia | Zlotogorski, Abraham; Hockberg, Ze'ev; Mirmirani, Paradi; Metzker, Arye; Ben-Amitai, Dan; Martínez Mir, Amalia CSIC ORCID; Panteleyev, Andrei A.; Christiano, Angela M. | artículo |
openAccess | | ago-2003 | Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions | Paller, Amy S.; Varigos, George; Metzker, Arye; Bauer, Robert C.; Opie, Jacinta; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M.; Zlotogorski, Abraham | artículo |
closedAccess | | 7-may-2003 | Congenital universal hypertrichosis with deafness and dental anomalies inherited as an X-linked trait | Tadin-Strapps, M.; Salas-Alanis, J. C.; Moreno, L.; Warburton, D.; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M. | artículo |
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 |
closedAccess | | 2006 | Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene | Poblete-Gutiérrez, P.; Wiederholt, T.; Martínez Mir, Amalia CSIC ORCID; Merk, H. F.; Connor, J. M.; Christiano, Angela M.; Frank, Jorge | artículo |
closedAccess | | 18-abr-2003 | Desmoglein 4 in Hair Follicle Differentiation and Epidermal Adhesion: Evidence from Inherited Hypotrichosis and Acquired Pemphigus Vulgaris | Kljuic, Ana; Bazzi, Hisham; Sundberg, John P.; Martínez Mir, Amalia CSIC ORCID; O'Shaughnessy, Ryan; Mahoney, My G.; Levy, Moise; Montagutelli, Xavier; Ahmad, Wasim; Aita, Vincent M.; Gordon, Derek; Uitto, Jouni; Whiting, David; Ott, Jurg; Fischer, Stuart; Gilliam, T. Conrad; Jahoda, Colin A. B.; Morris, Rebecca J.; Panteleyev, Andrei A.; Nguyen, Vu Thuong; Christiano, Angela M. | artículo |
closedAccess | | 2005 | Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats | Bazzi, Hisham; Martínez Mir, Amalia CSIC ORCID; Kljuic, Ana; Christiano, Angela M. | artículo |
closedAccess | | nov-2016 | Dominant-negative mutation p.Arg324Thr in KCNA1 impairs Kv1.1 channel function in episodic ataxia | Tristán Clavijo, E. CSIC; Scholl, Francisco G.; Macaya Ruiz, A.; Iglesias Escalera, G.; Rojas Mendoza, Ana M. CSIC ORCID ; Lucas, Miguel; Castellano, Antonio CSIC ORCID; Martínez Mir, Amalia CSIC ORCID | artículo |
openAccess | | mar-2002 | EB Simplex Superficialis Resulting from a Mutation in the Type VII Collagen Gene | Martínez Mir, Amalia CSIC ORCID; Liu, Jianjun; Gordon, Derek; Weiner, Madeline S.; Ahmad, Wasim; Fine, Jo-David; Ott, Jurg; Gilliam, T. Conrad; Christiano, Angela M. | artículo |
closedAccess | | 2010 | Epidemiología y genética de las convulsiones febriles | Martínez Mir, Amalia CSIC ORCID | capítulo de libro |
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 | | 2002 | Evidence for Pseudodominant Inheritance of Atrichia with Papular Lesions | Zlotogorski, Abraham; Martínez Mir, Amalia CSIC ORCID; Green, Jack; Lam, H.; Panteleyev, Andrei A.; Sinclair, Rodney; Christiano, Angela M. | artículo |
closedAccess | | 11-ene-2005 | Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer | Chan, I.; Wong, T.; Martínez Mir, Amalia CSIC ORCID; Christiano, Angela M.; McGrath, John J. | artículo |
closedAccess | | may-2013 | Generation of a transgenic mouse model to inhibit the function of beta-neurexin-1, a gene involved in autism spectrum disorders | Rabaneda, Luis G. CSIC; Robles Lanuza, Estefanía CSIC; Pecero López, M. L. CSIC; Páez Gómez, Juan Antonio CSIC; Martínez Mir, Amalia CSIC ORCID; Gómez Scholl, F. CSIC ORCID | póster de congreso |
openAccess | | 2003 | Genetic Linkage Studies in Alopecia Areata | Martínez Mir, Amalia CSIC ORCID; Zlotogorski, Abraham; Ott, Jurg; Gordon, Derek; Christiano, Angela M. | artículo |
closedAccess | | 1999 | Genetic mapping and evaluation of PDE6A in 49 spanish families with autosomal recessive retinitis pigmentosa | Martínez Mir, Amalia CSIC ORCID; Paloma, Eva; Balcells, Susana; Vilageliu, L.; Pittler, S. J.; González-Duarte, Roser | capítulo de libro |
closedAccess | | 2013 | Genetic study of neurexin and neuroligin genes in Alzheimer's disease | Martínez Mir, Amalia CSIC ORCID; González-Pérez, Antonio; Gayán, Javier; Antúnez, Carmen; Marín, Juan J. CSIC; Boada, Mercè; López-Arrieta, Jesús; Fernández, Evaristo; Ramírez Lorca, Reposo CSIC ORCID; Sáez, María Eugenia; Ruiz, Agustín; Scholl, Francisco G.; Real, Luis Miguel CSIC ORCID | artículo |