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Reply to He et al.
- Published in:
- 2011
- By:
- Publication type:
- Letter
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 12, p. 1353, doi. 10.1038/ejhg.2010.118
- By:
- Publication type:
- Article
The phenotypic spectrum of epilepsy associated with periventricular nodular heterotopia.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 8, p. 3934, doi. 10.1007/s00415-023-11724-z
- By:
- Publication type:
- Article
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
- Published in:
- 2015
- By:
- Publication type:
- journal article
CRISPR/Cas9‐based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1029, doi. 10.1002/jimd.12681
- By:
- Publication type:
- Article