Daniel Grinberg

Affiliations: 
Universitat de Barcelona, Barcelona, Cataluña, Spain 
Area:
Human molecular genetics
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"Daniel Grinberg"
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Publications

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Garcia-Giralt N, Ovejero D, Grinberg D, et al. (2024) Assessing the contribution of genes involved in monogenic bone disorders to the etiology of atypical femoral fractures. Human Genomics. 18: 87
Roca-Ayats N, Maceda I, Bruque CD, et al. (2024) Evolutionary and functional analyses of LRP5 in archaic and extant modern humans. Human Genomics. 18: 53
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
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
Ovejero D, Garcia-Giralt N, Martínez-Gil N, et al. (2022) Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions. Bone. 161: 116450
López-Márquez A, Morín M, Fernández-Peñalver S, et al. (2022) CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts. International Journal of Molecular Sciences. 23
Martínez-Gil N, Ovejero D, Garcia-Giralt N, et al. (2022) Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci. Jbmr Plus. 6: e10602
Martínez-Gil N, Mellibovsky L, Manzano-López González D, et al. (2022) On the association between Chiari malformation type 1, bone mineral density and bone related genes. Bone Reports. 16: 101181
Andrade I, Ribeiro R, Carneiro ZA, et al. (2022) Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report. Journal of Medical Case Reports. 16: 46
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