Found: 9
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Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0500-x
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- Article
New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
- Published in:
- PLoS ONE, 2021, v. 16, n. 10, p. 1, doi. 10.1371/journal.pone.0258766
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- Article
The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.
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- Frontiers in Neuroscience, 2021, v. 15, p. 1, doi. 10.3389/fnins.2021.618098
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- Article
Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.
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- Clinical Epigenetics, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s13148-024-01652-8
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- Article
Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01743-0
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- Article
Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman‐like syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1002/mgg3.511
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- Article
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1352063
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- Article
Improving Hereditary Hemorrhagic Telangiectasia Molecular Diagnosis: A Referral Center Experience.
- Published in:
- Genes, 2023, v. 14, n. 3, p. 772, doi. 10.3390/genes14030772
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- Publication type:
- Article
Optical coherence tomography biomarkers in MYO7A-inherited retinal dystrophy: longitudinal study in pediatric patients.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2024, v. 262, n. 10, p. 3375, doi. 10.1007/s00417-024-06545-3
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- Article