Found: 11
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Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study.
- Published in:
- Nutrients, 2018, v. 10, n. 12, p. 1944, doi. 10.3390/nu10121944
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- Publication type:
- Article
Deficient methylation and formylation of mt-tRNA<sup>Met</sup> wobble cytosine in a patient carrying mutations in NSUN3.
- Published in:
- Nature Communications, 2016, v. 7, n. 6, p. 12039, doi. 10.1038/ncomms12039
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- Publication type:
- Article
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
- Published in:
- 2022
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- Publication type:
- journal article
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
- Published in:
- 2019
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- Publication type:
- journal article
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 492, doi. 10.1002/acn3.189
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- Publication type:
- Article
De novo variants in neurodevelopmental disorders—experiences from a tertiary care center.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 1, p. 14, doi. 10.1111/cge.13946
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- Publication type:
- Article
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 5, p. 507, doi. 10.1111/cge.13831
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- Publication type:
- Article
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 3, doi. 10.1007/s10545-015-9896-7
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- Publication type:
- Article
Outcome of severe unilateral cerebellar hypoplasia.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 8, p. 718, doi. 10.1111/j.1469-8749.2009.03522.x
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- Publication type:
- Article
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
- Published in:
- Human Mutation, 2021, v. 42, n. 1, p. 66, doi. 10.1002/humu.24130
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- Publication type:
- Article
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 23, p. 4689, doi. 10.1093/hmg/ddx351
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- Publication type:
- Article