Found: 12
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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
Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 2, p. 167, doi. 10.1111/cge.14248
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- Publication type:
- Article
Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes.
- Published in:
- Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-01056-w
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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
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2623, doi. 10.1002/ajmg.a.40493
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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
De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.
- Published in:
- 2018
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- Publication type:
- journal article
Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers.
- Published in:
- Frontiers in Aging Neuroscience, 2018, p. 1, doi. 10.3389/fnagi.2018.00155
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- Publication type:
- Article
A recurrent de novo missense mutation in UBTF causes developmental neuroregression.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 691, doi. 10.1093/hmg/ddx435
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- Publication type:
- Article
Total Extracellular Small RNA Profiles from Plasma, Saliva, and Urine of Healthy Subjects.
- Published in:
- Scientific Reports, 2017, p. 44061, doi. 10.1038/srep44061
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- Publication type:
- Article