Found: 9
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FGF12 copy number variant associated with epileptic encephalopathy.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 114, doi. 10.1111/cge.14542
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- Publication type:
- Article
Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 10, p. 1437, doi. 10.3390/cells12101437
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- Publication type:
- Article
Mutations in TAF8 cause a neurodegenerative disorder.
- Published in:
- 2022
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- Publication type:
- journal article
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 2, p. 1, doi. 10.1002/mgg3.1857
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- Publication type:
- Article
Telomere Length and Autism Spectrum Disorder Within the Family: Relationships With Cognition and Sensory Symptoms.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 7, p. 1094, doi. 10.1002/aur.2307
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- Publication type:
- Article
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1409, doi. 10.1007/s00439-019-02077-7
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- Publication type:
- Article
Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 2, p. 183, doi. 10.1111/cge.13580
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- Publication type:
- Article
Common BACE2 Polymorphisms are Associated with Altered Risk for Alzheimer's Disease and CSF Amyloid Biomarkers in APOE ε4 Non-Carriers.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45896-4
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- Publication type:
- Article
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1549, doi. 10.1002/ajmg.a.38712
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- Publication type:
- Article