Pablo
Prieto Matos
Profesor Permanente Laboral
Hospital Universitario La Paz
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Hospital Universitario La Paz (4)
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
2018
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Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature
Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829
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