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Gene|March 26, 2013
A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disabilityLaia Rodríguez-Revenga, Elena Vallespín, Irene Madrigal, et al.
European Journal of Human Genetics : EJHG|July 29, 2010
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiencyJudit García-Villoria, Laura Gort, Irene Madrigal, et al.
Mitochondrion|March 17, 2020
Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndromeMaria Isabel Alvarez-Mora, Cristina Santos, Lidia Carreño-Gago, et al.
BMC Medical Genetics|June 18, 2009
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?Nuria Gómez-Fernández, Sergi Castellví-Bel, Ceres Fernández-Rozadilla, et al.
Journal of Clinical Pathology|October 2, 2014
Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromesIrene Madrigal, Maria Isabel Alvarez-Mora, Olof Karlberg, et al.
American Journal of Human Genetics|December 17, 2009
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombinationJoke Vandewalle, Hilde Van Esch, Karen Govaerts, et al.
Mutation Research|February 5, 2016
Comprehensive molecular testing in patients with high functioning autism spectrum disorderMaria Isabel Alvarez-Mora, Rosa Calvo Escalona, Olga Puig Navarro, et al.
Frontiers in Aging Neuroscience|January 23, 2023
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndromeAndrea Elias-Mas, Miriam Potrony, Jaume Bague, et al.
European Journal of Internal Medicine|June 6, 2026
Recurrent t(9;12) translocation disrupting ACVRL1 intron 9 causes hereditary haemorrhagic telangiectasia missed by standard exome sequencing in four unrelated familiesAnna Esteve-Garcia, Irene Madrigal, Cinthia Aguilera, et al.
Genes|April 28, 2023
Implementation of Exome Sequencing in Clinical Practice for Neurological DisordersMaría Isabel Alvarez-Mora, Laia Rodríguez-Revenga, Meritxell Jodar, et al.
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