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Critical Reviews in Clinical Laboratory Sciences|January 25, 2023
Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-upAbraham J Paredes-Fuentes, Clara Oliva, Roser Urreizti, et al.American Journal of Medical Genetics. Part A|November 7, 2019
Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studiesEyby Leon, Jullianne Diaz, Laura Castilla-Vallmanya, et al.Clinical Biochemistry|June 8, 2007
A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control studyRoser Urreizti, Carla Asteggiano, Maria Antonia Vilaseca, et al.Human Mutation|January 24, 2006
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutationsRoser Urreizti, Carla Asteggiano, Mónica Cozar, et al.Clinical Case Reports|August 28, 2018
The <i>ASXL1</i> mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz SyndromeRoser Urreizti, Semra Gürsoy, Laura Castilla-Vallmanya, et al.European Journal of Obstetrics, Gynecology, and Reproductive Biology|May 4, 2005
Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnanciesEva Also-Rallo, Eva Lopez-Quesada, Roser Urreizti, et al.Medicine|March 1, 2019
Case report of a child bearing a novel deleterious splicing variant in PIGTSamantha Mason, Laura Castilla-Vallmanya, Con James, et al.Calcified Tissue International|April 15, 2010
Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohortLídia Agueda, Roser Urreizti, Mariona Bustamante, et al.Journal of Medical Genetics|March 28, 2024
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndromeMónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson, et al.Pediatric Nephrology (Berlin, Germany)|September 7, 2002
Hyperhomocysteinemia in children with renal transplantsLuis Aldámiz-Echevarría, Pablo Sanjurjo, Alfredo Vallo, et al.Pageof 5