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  • Cozar M, Urreizti R, Vilarinho L, Grosso C, Dodelson de Kremer R, Asteggiano CG, Dalmau J, García AM, Vilaseca MA, Grinberg-Vaisman DR and Balcells S.

    Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

    HUMAN MUTATION . 32(7): 835-842. Number of citations: 13

    [doi:10.1002/humu.21514]

  • Agueda L, Velázquez-Cruz R, Urreizti R, Yoskovitz G, Sarrión P, Jurado S, Güerri R, Garcia-Giralt N, Nogués X, Mellibovsky L, Díez-Pérez A, Marie PJ, Balcells S and Grinberg-Vaisman DR.

    Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation.

    JOURNAL OF BONE AND MINERAL RESEARCH . 26(5): 1133-1144. Number of citations: 12

    [doi:10.1002/jbmr.293]

  • Palma-Milla C, Prat-Planas A, Soengas-Gonda E, Centeno-Pla M, Sánchez-Pozo J, Lazaro-Rodriguez I, Quesada-Espinosa JF, Arteche-Lopez A, Olival J, Pacio-Miguez M, Palomares-Bralo M, Santos-Simarro F, Cancho-Candela R, Vázquez-López M, Seidel V, Martinez-Monseny T, Casas-Alba D, Grinberg-Vaisman DR, Balcells S, Serrano M, Rabionet-Janssen R, Martin MA and Urreizti R.

    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.

    [doi:10.1016/j.pediatrneurol.2024.03.008]