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Journal of Clinical Pathology|March 31, 2012
A170P mutation in SHOX gene in a patient not presenting with Madelung deformityMaría Isabel Alvarez-Mora, Irene Madrigal, Laia Rodriguez-Revenga, et al.Journal of Medical Genetics|March 22, 2019
Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertensionPau Puigdevall, Lucilla Piccari, Isabel Blanco, et al.Blood Cells, Molecules & Diseases|February 3, 2007
Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyriaJordi To-Figueras, Celia Badenas, José M A Mascaró, et al.American Journal of Medical Genetics. Part A|December 14, 2006
Duplication/deletion mosaicism of the 7q(21.1 --> 31.3) regionCarme Morales, Irene Madrigal, Teresa Esqué, et al.The Application of Clinical Genetics|May 5, 2025
NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the ImplementationFco Javier Fernández Martínez, M Mar Gil Mira, Cristina González González, et al.Neurobiology of Disease|January 15, 2014
Blood expression profiles of fragile X premutation carriers identify candidate genes involved in neurodegenerative and infertility phenotypesElisabet Mateu-Huertas, Laia Rodriguez-Revenga, Maria Isabel Alvarez-Mora, et al.American Journal of Medical Genetics. Part A|April 17, 2008
Atypical XX male with the SRY gene located at the long arm of chromosome 1 and a 1qter microdeletionRosa Queralt, Irene Madrigal, M Angeles Vallecillos, et al.European Journal of Human Genetics : EJHG|January 7, 2016
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disabilityIrene Madrigal, Maria Isabel Alvarez-Mora, Jordi Rosell, et al.European Journal of Human Genetics : EJHG|March 24, 2011
Intermediate FMR1 alleles and cognitive and/or behavioural phenotypesIrene Madrigal, Mar Xunclà, Maria Isabel Tejada, et al.Genetic Testing|April 1, 2008
Screening for FXTAS in 95 Spanish patients negative for Huntington diseaseLaia Rodriguez-Revenga, M Mònica Santos, Aurora Sánchez, et al.Pageof 7