Found: 15
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HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1570, doi. 10.1038/ejhg.2009.104
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- Article
Prevalence of <i>SCN1A</i>-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0065758
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- Article
Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism.
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- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005324
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- Article
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes.
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- Human Genetics, 2024, v. 143, n. 6, p. 761, doi. 10.1007/s00439-024-02679-w
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- Article
Na<sub>v</sub>1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
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- European Journal of Neuroscience, 2011, v. 34, n. 8, p. 1268, doi. 10.1111/j.1460-9568.2011.07826.x
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- Article
Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells.
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- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0399-z
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- Article
Detection of the ACAGG Repeat Motif in RFC1 in Two Dutch Ataxia Families.
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- Movement Disorders, 2023, v. 38, n. 8, p. 1555, doi. 10.1002/mds.29441
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- Article
Relationship of electrophysiological dysfunction and clinical severity in SCN2A‐related epilepsies.
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- Human Mutation, 2018, v. 39, n. 12, p. 1942, doi. 10.1002/humu.23619
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- Article
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
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- Human Mutation, 2011, v. 32, n. 7, p. 853, doi. 10.1002/humu.21523
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- Article
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
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- Epilepsia Open, 2023, v. 8, n. 4, p. 1300, doi. 10.1002/epi4.12799
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- Article
Further delineation of the GDF6 related multiple synostoses syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 225, doi. 10.1002/ajmg.a.38503
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- Article
Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A‐related seizure phenotypes.
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- Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1154, doi. 10.1111/epi.14191
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- Article
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
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- Epilepsia (Series 4), 2018, v. 59, n. 3, p. 690, doi. 10.1111/epi.14021
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- Article
Adults with a history of possible Dravet syndrome: An illustration of the importance of analysis of the SCN1A gene.
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- Epilepsia (Series 4), 2011, v. 52, n. 4, p. e23, doi. 10.1111/j.1528-1167.2011.02982.x
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- Article
Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep.
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- Journal of Child Neurology, 2012, v. 27, n. 2, p. 178, doi. 10.1177/0883073811416006
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- Article