Found: 16
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Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
- Published in:
- Brain: A Journal of Neurology, 2022, v. 145, n. 8, p. 2704, doi. 10.1093/brain/awac117
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- Publication type:
- Article
Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas.
- Published in:
- Nature Genetics, 2014, v. 46, n. 2, p. 161, doi. 10.1038/ng.2868
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- Publication type:
- Article
Non‐vascular intracranial lesions in three children with PHACE association.
- Published in:
- Pediatric Dermatology, 2024, v. 41, n. 2, p. 284, doi. 10.1111/pde.15423
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- Publication type:
- Article
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.
- Published in:
- Scientific Reports, 2016, p. 26202, doi. 10.1038/srep26202
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- Publication type:
- Article
Rapid reversal of uremic neuropathy following renal transplantation in an adolescent.
- Published in:
- Pediatric Transplantation, 2012, v. 16, n. 7, p. E296, doi. 10.1111/j.1399-3046.2011.01630.x
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- Publication type:
- Article
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 87, doi. 10.1186/1471-2350-12-87
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- Publication type:
- Article
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
- Published in:
- 2016
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- Publication type:
- journal article
Neuromuscular pathology in Vici syndrome.
- Published in:
- FASEB Journal, 2007, v. 21, n. 5, p. A399
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- Publication type:
- Article
The lost art of localization: Franc Ingraham's legacy in pediatric neurosurgery.
- Published in:
- Journal of Neurosurgery, 2013, p. 642, doi. 10.3171/2013.8.PEDS1377
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- Publication type:
- Article
Intrasacral meningocele in the pediatric population.
- Published in:
- Journal of Neurosurgery, 2013, p. 615, doi. 10.3171/2013.3.PEDS12519
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- Publication type:
- Article
Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 6, p. 790
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- Publication type:
- Article
Cover.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. i, doi. 10.1002/mgg3.646
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- Publication type:
- Article
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 3, p. N.PAG, doi. 10.1002/mgg3.552
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- Publication type:
- Article
Mutations That Disrupt the Carboxyl-Terminus of γ-Sarcoglycan Cause Muscular Dystrophy.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 11, p. 1841, doi. 10.1093/hmg/5.11.1841
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- Publication type:
- Article
Dp140: a novel 140 kDa CNS transcript from the dystrophin locus.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 3, p. 329
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- Publication type:
- Article
A Case of Congenital Glycogen Storage Disease Type IV With a Novel GBE1 Mutation.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 3, p. 349, doi. 10.1177/0883073807309248
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- Publication type:
- Article