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Visualitza Recerca: articles, congressos, llibres per autoria "Cruz, Xavier de la"

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FHLdb: a comprehensive database on the molecular basis of familial hemophagocytic lymphohistiocytosis

Viñas Giménez, Laura; Padilla, Natàlia; Batlle Masó, Laura, 1993-; Casals López, Ferran; Rivière, Jacques G.; Martínez-Gallo, Mónica; Cruz, Xavier de la; Colobran, Roger (Frontiers, 2020)

Background: Primary immunodeficiencies (PIDs) are a heterogeneous group of disorders. The lack of comprehensive disease-specific mutation databases may hinder or delay classification of the genetic variants found in samples ...
New genes involved in Angelman syndrome-like: expanding the genetic spectrum

Aguilera, Cinthia; Gabau, Elisabeth; Ramirez-Mallafré, Ariadna; Brun i Gasca, Carme; Dominguez-Carral, Jana; Delgadillo, Veronica; Laurie, Steven, 1973-; Derdak, Sophia; Padilla, Natàlia; Cruz, Xavier de la; Capdevila, Núria; Spataro, Nino, 1984-; Baena, Neus; Guitart, Miriam; Ruiz, Anna (Public Library of Science (PLoS), 2021)

Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG ...
PMut: A web-based tool for the annotation of pathological variants on proteins, 2017 update

López Ferrando, Víctor; Gazzo, Andrea M.; Cruz, Xavier de la; Orozco, Modesto; Gelpí, Josep Lluís (Oxford University Press, 2017)

We present here a full update of the PMut predictor, active since 2005 and with a large acceptance in the field of predicting Mendelian pathological mutations. PMut internal engine has been renewed, and converted into a ...