Roser Urreizti
Affiliations: | Dept. of Genetics, Microbiology and Statistics | Universitat de Barcelona, Barcelona, Cataluña, Spain |
Google:
"Roser Urreizti"Parents
Sign in to add mentor| Susanna Balcells Comas | grad student | Universitat de Barcelona (FlyTree) | |
| Daniel Grinberg | grad student | Universitat de Barcelona |
BETA: Related publications
See more...
Publications
|
You can help our author matching system! If you notice any publications incorrectly attributed to this author, please sign in and mark matches as correct or incorrect. |
| 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 |
| Mason S, Castilla-Vallmanya L, James C, et al. (2019) Case report of a child bearing a novel deleterious splicing variant in PIGT. Medicine. 98: e14524 |
| Urreizti R, Grinberg D, Balcells S. (2019) C syndrome - what do we know and what could the future hold? Expert Opinion On Orphan Drugs. 7: 91-94 |