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Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.732002
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- Article
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.625564
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- Article
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
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- Molecular Syndromology, 2023, v. 14, n. 5, p. 433, doi. 10.1159/000529408
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- Article
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 12, p. 674, doi. 10.1002/bdr2.2065
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- Article
Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes.
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- Cells (2073-4409), 2023, v. 12, n. 15, p. 1952, doi. 10.3390/cells12151952
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- Article