ALBERTO
FERNANDEZ JAEN
PROFESOR
Cincinnati Children's Hospital Medical Center
Cincinnati, Estados UnidosPublicaciones en colaboración con investigadores/as de Cincinnati Children's Hospital Medical Center (3)
2020
-
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
American Journal of Human Genetics, Vol. 107, Núm. 3, pp. 499-513
-
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Genetics in Medicine, Vol. 22, Núm. 8, pp. 1338-1347
2016
-
Clinical delineation of the PACS1-related syndrome-Report on 19 patients
American Journal of Medical Genetics, Part A, Vol. 170, Núm. 3, pp. 670-675