Arama Sonuçları - Inmaculada Rueda‐Arenas
- Gösterilen 1 - 4 sonuçlar arası kayıtlar. 4
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1
Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor Yazar: Leila Cabral de Almeida Cardoso, Lara Rodríguez‐Laguna, M. Carmen Crespo, Elena Vallespín, María Palomares‐Bralo, Rubén Martín‐Arenas, Inmaculada Rueda‐Arenas, Paulo Antônio Silvestre de Faria, Purificación García‐Miguel, Pablo Lapunzina, Fernando Regla Vargas, Héctor N. Seuánez, Víctor Martínez‐Glez
Baskı/Yayın Bilgisi 2015Artigo -
2
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium Yazar: José A. Caparrós‐Martín, Alessandro De Luca, François Cartault, Mona Aglan, Samia A. Temtamy, Ghada A. Otaify, Mennat Mehrez, Eulalia Valencia, Laura Vázquez, Jean-Luc Alessandri, Julián Nevado, Inmaculada Rueda‐Arenas, Karen E. Heath, M. Cristina Digilio, Bruno Dallapiccola, Judith A. Goodship, Pleasantine Mill, Pablo Lapunzina, Víctor L. Ruiz‐Pérez
Baskı/Yayın Bilgisi 2015Artigo -
3
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype Yazar: Lara Rodríguez‐Laguna, Kristina Ibáñez, Gema Gordo, Sixto García‐Miñaúr, Fernando Santos‐Simarro, Noelia Agrá, Elena Vallespín, Victoria E Fernández-Montaño, Rubén Martín‐Arenas, Ángela del Pozo, Héctor González-Pecellín, Rocío Mena, Inmaculada Rueda‐Arenas, María Vanessa Pérez-Gómez, Cristina Villaverde, Ana Bustamante, Carmen Ayuso, Víctor L. Ruiz‐Pérez, Julián Nevado, Pablo Lapunzina, Juan Carlos López‐Gutiérrez, Víctor Martínez‐Glez
Baskı/Yayın Bilgisi 2018Artigo -
4
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome Yazar: Julián Nevado, Jill A. Rosenfeld, Rocío Mena, María Palomares‐Bralo, Elena Vallespín, María Ángeles Mori, Jair Tenorio, Karen W. Gripp, Elizabeth Denenberg, Miguel Del Campo, Alberto Plaja, Rubén Martín‐Arenas, Fernando Santos‐Simarro, Lluı́s Armengol, Gordon C. Gowans, María Orera, M Carmen Sanchez-Hombre, Esther Corbacho-Fernández, Alberto Fernández‐Jaén, Chad R. Haldeman‐Englert, Sulagna C. Saitta, Holly Dubbs, Duban B Bénédicte, Xia Li, Lani Devaney, Mary Beth Dinulos, Stephanie E. Vallee, M. Carmen Crespo, Blanca Fernández, Victoria E Fernández-Montaño, Inmaculada Rueda‐Arenas, María Torres, Jay W. Ellison, Salmo Raskin, Carlos Venegas-Vega, Fernando Fernández‐Ramírez, Alicia Delicado, Sixto García‐Miñaúr, Pablo Lapunzina
Baskı/Yayın Bilgisi 2015Artigo
Arama Araçları:
İlgili Konular
Biology
Gene
Genetics
Medicine
Chromosome
Pathology
Phenotype
Cancer
Cancer research
Candidate gene
Cell biology
Chromosomal region
Cilium
Comparative genomic hybridization
Copy number analysis
Copy-number variation
Genome
Germline mutation
Hedgehog
Hedgehog signaling pathway
Immunology
Internal medicine
Intraflagellar transport
Lymphatic system
Microcephaly
Microdeletion syndrome
Mutant
Mutation
Natural history
RNA