Pablo
Prieto Matos
Profesor Permanente Laboral
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Raras (3)
2023
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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients
Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654
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Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973
2017
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Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia
Clinical Genetics, Vol. 92, Núm. 1, pp. 91-98