Found: 3
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Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene.
- Published in:
- Orphanet Journal of Rare Diseases, 2010, v. 5, p. 33, doi. 10.1186/1750-1172-5-33
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- Publication type:
- Article
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
- Published in:
- 2011
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- Publication type:
- journal article
Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department.
- Published in:
- Neuropsychiatric Disease & Treatment, 2018, v. 14, p. 1715, doi. 10.2147/NDT.S165833
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- Publication type:
- Article