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American Journal of Medical Genetics. Part A|July 8, 2021
Second instance of co-occurring 22q11.2 deletion syndrome and Williams syndromeCrescenda L Uhles, Shirelle Barnes, Naseem Uddin, et al.Current Opinion in Pediatrics|August 9, 2022
Update on glycogen storage disease: primary hepatic involvementTiffany L Freeney Wright, Luis A Umaña, Charina M RamirezAmerican Journal of Medical Genetics. Part A|November 5, 2011
A male newborn with VACTERL association and Fanconi anemia with a FANCB deletion detected by array comparative genomic hybridization (aCGH)Luis A Umaña, Pilar Magoulas, Weimin Bi, et al.Journal of Child Neurology|October 14, 2016
Natural History of Sanfilippo Syndrome Type C in Boyacá, ColombiaHarvy Mauricio Velasco, Yasmin Sanchez, Angela Milena Martin, et al.Revista De Salud Publica (Bogota, Colombia)|August 24, 2018
[Clinical community genetics: exploring genetic disorders in Boyacá, Colombia]Harvy M Velasco, Ángela M Martin, Johanna Galvis, et al.American Journal of Human Genetics|December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotypeSusan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.Pageof 1