Listar por autor "Marcos Alcalde, Íñigo"
Mostrando ítems 1-15 de 15
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A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 – Review of the literature. Gudmundsson, Sanna; Annéren, Göran; Marcos Alcalde, Íñigo; Wilbe, Maria; Melin, Malin; Gómez-Puertas, Paulino; Bondeson, Marie-Louise (European Journal of Medical Genetics, 2019)
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Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood. Latorre Pecillera, Ana; Gil Salvador, Marta; Parenti, Ilaria; Lucía Campos, Cristina; Trujillano, Laura; Marcos Alcalde, Íñigo; Arnedo, María; Ascaso, Ángela; Ayerza‑Casas, Ariadna; Antoñanzas Pérez, Rebeca; Gervasini, Cristina; Piccione, María; Marini, Milena; Weber, Axel; Kuechler, Alma; Bueno‑Lozano, Gloria; Gómez‑Puertas, Paulino; Kaiser, Frank J.; Pié, Juan (Scientific Reports, 2021)
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Diversity of mechanisms to control bacterial GTP homeostasis by the mutually exclusive binding of adenine and guanine nucleotides to IMP dehydrogenase. Fernandez-Justel, David; Marcos Alcalde, Íñigo; Abascal, Federico; Vidaña, Nerea; Gomez-Puertas, Paulino; Jiménez, Alberto; Revuelta, José L.; Buey, Rubén M. (Protein Science, 2022)
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Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes. Latorre Peciller, Ana; Ascaso, Ángela; Trujillano, Laura; Gil Salvador, Marta; Arnedo, María; Lucía Campos, Cristina; Antoñanzas Pérez, Rebeca; Marcos Alcalde, Íñigo; Parenti, Ilaria; Bueno Lozano, Gloria; Musio, Antonio; Puisac, Beatriz; Kaiser, Frank J.; Ramos, Feliciano J.; Gómez Puertas, Paulino; Pie, Juan (International Journal of Molecular Sciences, 2020)
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Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients. Puisac, Beatriz; Marcos Alcalde, Íñigo; Hernández Marcos, María; Tobajas Morlana, Pilar; Levtova, Alina; C. Schwahn, Bernd; DeLaet, Corinne; Lace, Baiba; Gómez Puertas, Paulino; Pié, Juan (International Journal of Molecular Sciences, 2018)
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Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome. Lazo, Pedro A.; García, Juan L.; Gómez-Puertas, Paulino; Marcos Alcalde, Íñigo; Arjona, Cesar; Villarroel, Alvaro; González-Sarmiento, Rogelio; Fons, Carmen (International Journal of Molecular Sciences, 2020)
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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Kumble, Smitha; Marcos Alcalde, Íñigo; Tümer, Zeynep (Human Mutation: Variation, Informatics and Disease, 2021)
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Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11. Latorre-Pellicer, Ana; Ascaso, Ángela; Lucia-Campos, Cristina; Gil-Salvador, Marta; Arnedo, María; Antoñanzas, Rebeca; Ayerza-Casas, Ariadna; Marcos Alcalde, Íñigo; Gómez Puertas, Paulino; Ramos, Feliciano J.; Pié, Juan; Puisac, Beatriz (Molecular Genetics and Genomic Medicine, 2021)
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VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy. Marcos, Ana T.; Martín Doncel, Elena; Morejón García, Patricia; Marcos Alcalde, Íñigo; Gómez Puertas, Paulino; Segura Puimedon, María; Armengol, Lluis; Navarro Pando, José M.; Lazo, Pedro A. (Annals of Clinical and Translational Neurology, 2020)