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Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD). Eur J Neurol 27, 2257-2266 (2020).
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ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol 87, 217-232 (2020).
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Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency. JIMD Rep 44, 9-15 (2019).
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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly. Genet Med 20, 1354-1364 (2018).
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Asprosin is a centrally acting orexigenic hormone. Nat Med 23, 1444-1453 (2017).
ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment. Proc Natl Acad Sci U S A 113, 11289-11293 (2016).
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Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat 36, 1080-7 (2015).
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet 97, 647-60 (2015).
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