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Alice Basinger

University of North Carolina at Chapel Hill

20

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573

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An Unusually High Excretion of Ethylmalonic Acid in a Patient with Multiple Acyl-CoA Dehydrogenase Deficiency.

2021 Clinical Chemistry
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Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine, (2019), 21, 3, (601-607), 10.1038/s41436-018-0137-y)

2019 Genetics in Medicine
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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (vol 21, pg 601, 2019)

2019 Genetics in Medicine
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TANGO2 : expanding the clinical phenotype and spectrum of pathogenic variants

2019 Genetics in Medicine
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Correction to: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine, (2018), 10.1038/s41436-018-0137-y)

2018 Genetics in Medicine
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Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood

2018 American Journal of Human Genetics
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De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism

2017
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Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy

2017 Human Molecular Genetics
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Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

2016 American Journal of Human Genetics
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De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome

2009 Mitochondrion
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