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p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 5, p. 449, doi. 10.1111/cge.13618
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- Publication type:
- Article
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 611, doi. 10.1002/humu.23211
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- Publication type:
- Article
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase ( TRIT1) gene.
- Published in:
- Human Mutation, 2017, v. 38, n. 5, p. 511, doi. 10.1002/humu.23196
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- Publication type:
- Article
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 614, doi. 10.1093/hmg/ddab247
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- Publication type:
- Article
Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome.
- Published in:
- Epigenetics & Chromatin, 2017, v. 10, p. 1, doi. 10.1186/s13072-017-0118-4
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- Publication type:
- Article