HOSPITAL UNIVERSITARIO QUIRÓNSALUD MADRID
Departamento
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (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
2022
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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
American Journal of Human Genetics, Vol. 109, Núm. 10, pp. 1867-1884
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Benefits of SGLT2i for the Treatment of Heart Failure Irrespective of Diabetes Diagnosis: A State-of-the-Art Review
Diabetes Therapy, Vol. 13, pp. 19-34
2012
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Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis
Multiple Sclerosis Journal, Vol. 18, Núm. 7, pp. 983-990