Found: 9
Select item for more details and to access through your institution.
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 534, doi. 10.1093/brain/awac278
- By:
- Publication type:
- Article
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 11, p. 6118, doi. 10.3390/ijms23116118
- By:
- Publication type:
- Article
KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 6064, doi. 10.3390/ijms22116064
- By:
- Publication type:
- Article
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot.
- Published in:
- Human Genetics, 2023, v. 142, n. 8, p. 1055, doi. 10.1007/s00439-023-02572-y
- By:
- Publication type:
- Article
New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 11, p. 788, doi. 10.3390/brainsci10110788
- By:
- Publication type:
- Article
p140Cap Regulates the Composition and Localization of the NMDAR Complex in Synaptic Lipid Rafts.
- Published in:
- Journal of Neuroscience, 2022, v. 42, n. 38, p. 7183, doi. 10.1523/JNEUROSCI.1775-21.2022
- By:
- Publication type:
- Article
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
- Published in:
- Human Mutation, 2022, v. 43, n. 9, p. 1299, doi. 10.1002/humu.24414
- By:
- Publication type:
- Article
Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1712, doi. 10.1002/ajmg.a.62157
- By:
- Publication type:
- Article