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American Journal of Medical Genetics. Part A|August 13, 2020
Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosisHarvy M Velasco, Ehsan Ullah, Angela M Martin, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 10, 2020
Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in ColombiaJuliana Lores, Carlos E Prada, Diana Ramírez-Montaño, et al.American Journal of Medical Genetics. Part A|May 9, 2024
Aminotransferase trends in propionic acidemiaMaria P Silva, Carolyn R Raski, Joel Charrow, et al.American Journal of Medical Genetics. Part A|April 4, 2024
Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemiaAndy Drackley, Merlene Peter, Pamela Rathbun, et al.JMIR Research Protocols|June 11, 2016
Determination of Anti-Adeno-Associated Viral Vector Neutralizing Antibodies in Patients With Heart Failure in the Cardiovascular Foundation of Colombia (ANVIAS): Study ProtocolMelvin Y Rincon, Carlos E Prada, Marcos Lopez, et al.Nephron|March 30, 2025
Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening ExperienceAllison M Paltzer, Allegra M Quadri, Carly Rasmussen, et al.American Journal of Medical Genetics. Part A|October 3, 2025
A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic MedicineSarah Jurgensmeyer Langas, Allison Goetsch Weisman, Valerie Allegretti, et al.Developmental Biology|March 29, 2021
A role for sustained MAPK activity in the mouse ventral telencephalonMary Jo Talley, Diana Nardini, Shenyue Qin, et al.American Journal of Medical Genetics. Part A|May 14, 2011
Lethal presentation of neurofibromatosis and Noonan syndromeCarlos E Prada, Yuri A Zarate, Sean Hagenbuch, et al.American Journal of Medical Genetics. Part A|August 5, 2024
Presentation of ichthyosis after substrate reduction therapy in Gaucher type 1Jack Herbster, Carlos E Prada, Carly A Rasmussen, et al.Pageof 11