Found: 13
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Myorhythmia-Like Dyskinesia Affecting the Face and Ear Associated With Anti- N-Methyl- d-Aspartate Receptor Encephalitis.
- Published in:
- Movement Disorders Clinical Practice, 2016, v. 3, n. 4, p. 425, doi. 10.1002/mdc3.12300
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- Article
TAZ/WWTR1 Mediates the Pulmonary Effects of NKX2-1 Mutations in Brain-Lung-Thyroid Syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Symptomatic epidural lipomatosis of the spinal cord in a child: MR demonstration of spinal cord injury.
- Published in:
- Pediatric Radiology, 2002, v. 32, n. 12, p. 865, doi. 10.1007/s00247-002-0811-7
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- Article
Erratum to: Posterior reversible encephalopathy syndrome (PRES): a rare condition after resection of posterior fossa tumors: two new cases and review of the literature.
- Published in:
- 2016
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- Publication type:
- Erratum
Vertebral artery fibromuscular dysplasia: an unusual cause of stroke in a 3-year-old child.
- Published in:
- 2003
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- Publication type:
- journal article
Vertebral artery fibromuscular dysplasia: an unusual cause of stroke in a 3-year-old child.
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- Developmental Medicine & Child Neurology, 2003, v. 45, n. 10, p. 709, doi. 10.1017/S0012162203001312
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- Article
A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ.
- Published in:
- Thyroid, 2024, v. 34, n. 7, p. 942, doi. 10.1089/thy.2023.0593
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- Article
The role of Indigenous and Community Conservation Areas in herpetofauna conservation: a preliminary list for Santa Cruz Tepetotutla, Oaxaca Mexico.
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- ZooKeys, 2021, n. 1029, p. 185, doi. 10.3897/zookeys.1029.62205
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- Article
Ichthyosis: The Skin Manifestation of Multiple Sulfatase Deficiency.
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- Pediatric Dermatology, 1997, v. 14, n. 5, p. 369, doi. 10.1111/j.1525-1470.1997.tb00984.x
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- Publication type:
- Article
Clinical Features and Molecular Characterization of a Patient With Muscle-Eye-Brain Disease: A Novel Mutation in the POMGNT1 Gene.
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- Journal of Child Neurology, 2014, v. 29, n. 2, p. 289, doi. 10.1177/0883073813509119
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- Article
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
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- Frontiers in Neuroscience, 2019, v. 13, p. 1, doi. 10.3389/fnins.2019.01135
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- Article
Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT- ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox- Gastaut Syndrome.
- Published in:
- Human Mutation, 2013, v. 34, n. 12, p. 1623, doi. 10.1002/humu.22445
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- Publication type:
- Article
First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.
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- Neurogenetics, 2021, v. 22, n. 4, p. 343, doi. 10.1007/s10048-021-00660-7
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- Publication type:
- Article