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Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM1... by Zöe Powis, Alexa Hart, Sara Cherny, Igor Petrik, Erika Palmaer, Sha Tang, Carolyn Jones
Published 2017-06-01
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When moments matter: Finding answers with rapid exome sequencing by Zöe Powis, Kelly D. Farwell Hagman, Kirsten Blanco, Margaret Au, John M. Graham, Kathryn Singh, Natalie Gallant, Linda M. Randolph, Meghan Towne, Jesse Hunter, Deepali N. Shinde, Erika Palmaer, Brian Schoenfeld, Sha Tang
Published 2020-02-01
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