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American Journal of Medical Genetics. Part A|November 11, 2025
Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the LiteratureCarolyn R Raski, Carlos E PradaDevelopmental Disabilities Research Reviews|June 26, 2013
Neuronopathic lysosomal storage diseases: clinical and pathologic findingsCarlos E Prada, Gregory A GrabowskiCurrent Opinion in Pediatrics|November 13, 2025
Current opinions on Noonan syndrome and RASopathiesKathryn Nicole Weaver, Carlos E PradaPediatrics|January 18, 2012
Genetic causes of macroglossia: diagnostic approachCarlos E Prada, Yuri A Zarate, Robert J HopkinAmerican Journal of Medical Genetics. Part A|July 28, 2025
Possible Founder Effect of Glycine Encephalopathy: Evidence of a GLDC c.2714T>G (p.Val905Gly) Common Variant in the Paisa Community Based in Cali, ColombiaStiven Ernesto Sinisterra-Diaz, Carlos E Prada, Harry PachajoaAmerican Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|March 4, 2023
Early allograft dysfunction in a pediatric liver allograft with an occult pathogenic mutation in the urea cycleMilad Rezvani, Kathleen M Campbell, Carlos E Prada, et al.American Journal of Medical Genetics. Part A|May 18, 2024
Dandy-Walker malformation in an individual with ABL1 variantJenny P Garzon, Andrea C Pardo, Carolyn R Raski, et al.Journal of Child Neurology|November 13, 2012
Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variantJeffrey R Tenney, Carlos E Prada, Robert J Hopkin, et al.Frontiers in Physiology|October 28, 2014
Endothelial dysfunction and preeclampsia: role of oxidative stressLissette C Sánchez-Aranguren, Carlos E Prada, Carlos E Riaño-Medina, et al.European Journal of Human Genetics : EJHG|September 25, 2020
NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophyNina McTiernan, Harinder Gill, Carlos E Prada, et al.Pageof 11