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Byrnes, James; Ganetzky, Rebecca; Lightfoot, Richard et al. (2018) Pharmacologic modeling of primary mitochondrial respiratory chain dysfunction in zebrafish. Neurochem Int 117:23-34
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Murali, Chaya N; Keena, Beth; Zackai, Elaine H (2018) Robinow syndrome: a diagnosis at the fingertips. Clin Dysmorphol 27:135-137
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Ganetzky, Rebecca D; Falk, Marni J (2018) 8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease. Mol Genet Metab 123:301-308
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Pinz, Hailey; Pyle, Louise C; Li, Dong et al. (2018) De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. Am J Med Genet A 176:969-972
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Mucha, Bettina E; Hashiguchi, Megumi; Zinski, Joseph et al. (2018) Variant BMP receptor mutations causing fibrodysplasia ossificans progressiva (FOP) in humans show BMP ligand-independent receptor activation in zebrafish. Bone 109:225-231
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Barca, Emanuele; Ganetzky, Rebecca D; Potluri, Prasanth et al. (2018) USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet 27:3305-3312
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Ahrens-Nicklas, Rebecca C; Ganetzky, Rebecca D; Rush, Peggy W et al. (2018) Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. J Inherit Metab Dis :
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Iwata-Otsubo, Aiko; Ritter, Alyssa L; Weckselbatt, Brooke et al. (2018) DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. Am J Med Genet A 176:241-245
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Chapman, Kimberly A; Ostrovsky, Julian; Rao, Meera et al. (2018) Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism. J Inherit Metab Dis 41:157-168
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Ahrens-Nicklas, Rebecca; Schlotawa, Lars; Ballabio, Andrea et al. (2018) Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement. Mol Genet Metab 123:337-346
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Showing the most recent 10 out of 79 publications
