Found: 16
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Craniofacial bone alterations in patients with neurofibromatosis type 1.
- Published in:
- Child's Nervous System, 2020, v. 36, n. 10, p. 2391, doi. 10.1007/s00381-020-04749-6
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- Publication type:
- Article
Attention and Executive Disorders in Neurofibromatosis 1: Comparison Between NF1 With ADHD Symptomatology (NF1 + ADHD) and ADHD Per Se.
- Published in:
- 2020
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- Publication type:
- journal article
Clinical and Electrophysiological Characterization of Essential Tremor in 18 Children and Adolescents.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.803
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- Publication type:
- Article
Consore: A Powerful Federated Data Mining Tool Driving a French Research Network to Accelerate Cancer Research.
- Published in:
- International Journal of Environmental Research & Public Health, 2024, v. 21, n. 2, p. 189, doi. 10.3390/ijerph21020189
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- Publication type:
- Article
Mechanisms underlying a life-threatening skeletal muscle Na.
- Published in:
- Journal of Physiology, 2011, v. 589, n. 13, p. 3115, doi. 10.1113/jphysiol.2011.207977
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- Publication type:
- Article
Liver Transplantation in Wilson's Disease with Neurological Impairment: Evaluation in 4 Patients.
- Published in:
- 2017
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- Publication type:
- Case Study
The effect of methylphenidate on neurofibromatosis type 1: a randomised, doubleblind, placebo-controlled, crossover trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0142-4
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- Publication type:
- Article
The effect of methylphenidate on neurofibromatosis type 1: a randomised, double-blind, placebo-controlled, crossover trial.
- Published in:
- 2014
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- Publication type:
- journal article
Correlation between pre- or postoperative MRI findings and cerebellar sequelae in patients with medulloblastomas.
- Published in:
- Pediatric Blood & Cancer, 2010, v. 55, n. 7, p. 1310, doi. 10.1002/pbc.22802
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- Publication type:
- Article
Cognitive impairment in children with CACNA1A mutations.
- Published in:
- 2020
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- Publication type:
- journal article
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
- Published in:
- 2018
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- Publication type:
- journal article
Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 462, doi. 10.1002/humu.22511
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- Publication type:
- Article
Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 5, p. 845, doi. 10.1111/epi.14727
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- Publication type:
- Article
Continuous Kidney Replacement Therapy Practices in Pediatric Intensive Care Units Across Europe.
- Published in:
- JAMA Network Open, 2022, v. 5, n. 12, p. e2246901, doi. 10.1001/jamanetworkopen.2022.46901
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- Publication type:
- Article
Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 10, p. N.PAG, doi. 10.1002/mgg3.939
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- Publication type:
- Article
The blood copper isotopic composition is a prognostic indicator of the hepatic injury in Wilson disease.
- Published in:
- Metallomics, 2020, v. 12, n. 11, p. 1781, doi. 10.1039/d0mt00167h
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- Publication type:
- Article