Publications by authors named "Jonathan Schoof"

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N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
Julien H Park, Robert G Mealer, Abdallah F Elias, Susanne Hoffmann, Marianne Grüneberg, Jonathan Schoof

J Inherit Metab Dis· November 2020

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Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Marisa W Friederich, Abdallah F Elias, Alice Kuster, Lucia Laugwitz, Austin A Larson, Jonathan Schoof

J Inherit Metab Dis· September 2020

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Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome.
John P Johnson, Linda Beischel, Corbin Schwanke, Katie Styren, Amy Crunk, Jonathan Schoof

J Assist Reprod Genet· June 2018

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Androgenetic/biparental mosaicism in an infant with hepatic mesenchymal hamartoma and placental mesenchymal dysplasia.
Robyn C Reed, Linda Beischel, Jonathan Schoof, John Johnson, Michael L Raff

Pediatr Dev Pathol· January 2009

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