Roser Urreizti
Affiliations: | Dept. of Genetics, Microbiology and Statistics | Universitat de Barcelona, Barcelona, Cataluña, Spain |
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"Roser Urreizti"Parents
Sign in to add mentor| Susanna Balcells Comas | grad student | Universitat de Barcelona (FlyTree) | |
| Daniel Grinberg | grad student | Universitat de Barcelona |
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| Palma-Milla C, Prat-Planas A, Soengas-Gonda E, et al. (2024) Expanding the Phenotypic Spectrum of TRAF7-Related Cardiac, Facial, and Digital Anomalies With Developmental Delay: Report of 11 New Cases and Literature Review. Pediatric Neurology. 155: 8-17 |
| Centeno-Pla M, Alcaide-Consuegra E, Gibson S, et al. (2024) Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome. Journal of Medical Genetics |
| Oliva C, Arias A, Ruiz M, et al. (2023) Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number. Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences. 1226: 123787 |
| Castilla-Vallmanya L, Centeno-Pla M, Serrano M, et al. (2022) Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2. Journal of Medical Genetics |
| Castilla-Vallmanya L, Gürsoy S, Giray-Bozkaya Ö, et al. (2021) and Mutations in a Highly Consanguineous Family. International Journal of Molecular Sciences. 22 |
| Castilla-Vallmanya L, Selmer KK, Dimartino C, et al. (2020) Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Urreizti R, Lopez-Martin E, Martinez-Monseny A, et al. (2020) Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. Orphanet Journal of Rare Diseases. 15: 44 |
| Leon E, Diaz J, Castilla-Vallmanya L, et al. (2019) Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies. American Journal of Medical Genetics. Part A |
| Urreizti R, Mayer K, Evrony GD, et al. (2019) Correction: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics : Ejhg |
| Urreizti R, Mayer K, Evrony GD, et al. (2019) DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European Journal of Human Genetics : Ejhg |