Found: 10
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The Shortest Isoform of Dystrophin (Dp40) Interacts with a Group of Presynaptic Proteins to Form a Presumptive Novel Complex in the Mouse Brain.
- Published in:
- Molecular Neurobiology, 2012, v. 45, n. 2, p. 287, doi. 10.1007/s12035-012-8233-5
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- Publication type:
- Article
A Video Report of Brain-Lung-Thyroid Syndrome in a Japanese Female With a Novel Frameshift Mutation of the NKX2-1 Gene.
- Published in:
- Child Neurology Open, 2016, v. 3, p. 1, doi. 10.1177/2329048X16665012
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- Publication type:
- Article
Bilateral choroid plexus resection in a 9p hexasomy/tetrasomy mosaic patient.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00268-x
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- Publication type:
- Article
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00251-y
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- Publication type:
- Article
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00251-y
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- Publication type:
- Article
Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00197-7
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- Publication type:
- Article
Low‐grade IVH in preterm infants causes cerebellar damage, motor, and cognitive impairment.
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- Pediatrics International, 2021, v. 63, n. 11, p. 1327, doi. 10.1111/ped.14691
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- Article
Complex hereditary spastic paraplegia associated with episodic visual loss caused by ACO2 variants.
- Published in:
- 2021
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- Case Study
α-Synuclein pathology in Drosophila melanogaster is exacerbated by haploinsufficiency of Rop: connecting STXBP1 encephalopathy with α-synucleinopathies.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 15, p. 1328, doi. 10.1093/hmg/ddae073
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- Publication type:
- Article
Impaired neuronal activity and differential gene expression in STXBP1 encephalopathy patient iPSC-derived GABAergic neurons.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 14, p. 1337, doi. 10.1093/hmg/ddab113
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- Publication type:
- Article