Found: 9
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Sleep Abnormalities in the Synaptopathies— SYNGAP1 -Related Intellectual Disability and Phelan–McDermid Syndrome.
- Published in:
- Brain Sciences (2076-3425), 2021, v. 11, n. 9, p. 1229, doi. 10.3390/brainsci11091229
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- Article
Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers.
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- Journal of Autism & Developmental Disorders, 2022, v. 52, n. 3, p. 1334, doi. 10.1007/s10803-021-05030-8
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- Article
Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 54, doi. 10.1038/ejhg.2014.51
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- Article
Social behavioral impairments in SYNGAP1-related intellectual disability.
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- Frontiers in Pediatrics, 2023, p. 1, doi. 10.3389/fped.2023.1188117
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- Article
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
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- Journal of Neurodevelopmental Disorders, 2024, v. 16, n. 1, p. 1, doi. 10.1186/s11689-024-09541-0
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- Article
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
- Published in:
- Nature, 2013, v. 503, n. 7474, p. 72, doi. 10.1038/nature12630
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- Article
Two de novo novel mutations in one <italic>SHANK3</italic> allele in a patient with autism and moderate intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 973, doi. 10.1002/ajmg.a.38622
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- Article
Infantile Spasms and Hyperekplexia Associated With Isolated Sulfite Oxidase Deficiency.
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- JAMA Neurology, 2014, v. 71, n. 6, p. 782, doi. 10.1001/jamaneurol.2013.5083
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- Article
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 1, p. 101
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- Article