Found: 11
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Early onset collagen VI myopathies: Genetic and clinical correlations.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 4, p. 511, doi. 10.1002/ana.22087
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- Publication type:
- Article
Clinical heterogeneity in pedigrees with 2q-linked febrile seizures.
- Published in:
- Annals of Neurology, 2000, v. 47, n. 6, p. 839, doi. 10.1002/1531-8249(200006)47:6<839::AID-ANA27>3.0.CO;2-S
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- Publication type:
- Article
Congenital hyperekplexia: five sporadic cases.
- Published in:
- 2006
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- Publication type:
- journal article
Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 8, p. 855, doi. 10.1038/ejhg.2012.269
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- Publication type:
- Article
Unilateral ulceration of the cornea secondary to congenital trigeminal nerve agenesis.
- Published in:
- European Journal of Ophthalmology, 2015, v. 25, n. 4, p. e35, doi. 10.5301/ejo.5000552
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- Publication type:
- Article
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677
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- Publication type:
- Article
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
- Published in:
- Nature Genetics, 2001, v. 29, n. 1, p. 17, doi. 10.1038/ng713
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- Publication type:
- Article
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.
- Published in:
- Nature Genetics, 2000, v. 24, n. 4, p. 343, doi. 10.1038/74159
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- Publication type:
- Article
Carboxypeptidase A6 gene ( CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
- Published in:
- Human Mutation, 2012, v. 33, n. 1, p. 124, doi. 10.1002/humu.21613
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- Publication type:
- Article
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. E1959, doi. 10.1002/humu.21373
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- Publication type:
- Article
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1803, doi. 10.1002/ajmg.a.62181
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- Publication type:
- Article