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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 16, 2018
Congenital heart disease and aortic arch variants associated with mutation in PHOX2BRachel C Lombardo, Aleksey Porollo, James F Cnota, et al.American Journal of Medical Genetics. Part A|March 22, 2019
A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasiaDeema Aljeaid, Rachel C Lombardo, David P Witte, et al.American Journal of Medical Genetics. Part A|April 20, 2017
Variable phenotype in a novel mutation in PHOX2BRachel C Lombardo, Elizabeth Kramer, James F Cnota, et al.American Journal of Medical Genetics. Part A|October 3, 2018
Congenital lumbar hernia-A feature of diabetic embryopathy?Cathy A Stevens, Jacob S Hogue, Robert J Hopkin, et al.The Journal of Pediatrics|November 11, 2018
Neonatal Lung Disease Associated with TBX4 MutationsKristen Suhrie, Nathan M Pajor, Shawn K Ahlfeld, et al.Pageof 1