Found: 11
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Autism spectrum disorder in Phelan- McDermid syndrome: initial characterization and genotype-phenotype correlations.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0323-9
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- Article
Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 105, doi. 10.1186/s13023-015-0323-9
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- Publication type:
- Article
Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1002/mgg3.1036
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- Article
Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
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- PLoS ONE, 2021, v. 16, n. 7, p. 1, doi. 10.1371/journal.pone.0253859
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Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
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- Human Molecular Genetics, 2023, v. 32, n. 9, p. 1457, doi. 10.1093/hmg/ddac296
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- Article
Sleep disturbances in Phelan‐McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
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- Clinical Genetics, 2023, v. 104, n. 2, p. 198, doi. 10.1111/cge.14361
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- Article
Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures.
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- Clinical Genetics, 2022, v. 101, n. 1, p. 87, doi. 10.1111/cge.14074
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- Article
Variability in Phelan‐McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.
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- Clinical Genetics, 2018, v. 94, n. 6, p. 590, doi. 10.1111/cge.13451
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- Article
Characterization of a Clinically and Biologically Defined Subgroup of Patients with Autism Spectrum Disorder and Identification of a Tailored Combination Treatment.
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- Biomedicines, 2024, v. 12, n. 5, p. 991, doi. 10.3390/biomedicines12050991
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- Article
Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02462-8
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- Article
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01289-7
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- Article