Found: 15
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Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms.
- Published in:
- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00469-z
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- Article
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
- Published in:
- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00431-z
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- Article
Gait Abnormalities in Children with Phelan-McDermid Syndrome.
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- Journal of Child Neurology, 2023, v. 38, n. 13/14, p. 665, doi. 10.1177/08830738231204395
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- Article
Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism.
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- Journal of Autism & Developmental Disorders, 2024, v. 54, n. 2, p. 794, doi. 10.1007/s10803-022-05587-y
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- Article
Assessing the utility of electronic measures as a proxy for cognitive ability.
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- Autism Research: Official Journal of the International Society for Autism Research, 2022, v. 15, n. 6, p. 988, doi. 10.1002/aur.2704
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- Article
Transient peripheral blood transcriptomic response to ketamine treatment in children with ADNP syndrome.
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- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-03005-8
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- Article
Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD.
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- Genes, 2021, v. 12, n. 7, p. 977, doi. 10.3390/genes12070977
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- Article
Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis.
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- Genes, 2021, v. 12, n. 3, p. 351, doi. 10.3390/genes12030351
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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
Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome.
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- Frontiers in Neuroscience, 2022, p. 1, doi. 10.3389/fnins.2022.815933
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- Article
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency.
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- Human Genetics, 2023, v. 142, n. 9, p. 1385, doi. 10.1007/s00439-023-02578-6
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- Article
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
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- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00408-w
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- Article
CHAMP1 disorder is associated with a complex neurobehavioral phenotype including autism, ADHD, repetitive behaviors and sensory symptoms.
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- Human Molecular Genetics, 2022, v. 31, n. 15, p. 2582, doi. 10.1093/hmg/ddac018
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- Article
Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
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- Human Molecular Genetics, 2022, v. 31, n. 4, p. 625, doi. 10.1093/hmg/ddab280
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- Article
Adult‐onset Niemann–Pick disease type C masquerading as spinocerebellar ataxia.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1906
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- Article