Found: 21
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Long-term effects of lumacaftor/ivacaftor on paranasal sinus abnormalities in children with cystic fibrosis detected with magnetic resonance imaging.
- Published in:
- Frontiers in Pharmacology, 2023, v. 14, p. 1, doi. 10.3389/fphar.2023.1161891
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- Publication type:
- Article
Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma: A Case Report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.
- Published in:
- 2017
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- Publication type:
- journal article
EEG and MEG Source Analysis of Single and Averaged Interictal Spikes Reveals Intrinsic Epileptogenicity in Focal Cortical Dysplasia.
- Published in:
- Epilepsia (Series 4), 2004, v. 45, n. 6, p. 621, doi. 10.1111/j.0013-9580.2004.56503.x
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- Publication type:
- Article
Magnetic Resonance Imaging of Pulmonary and Paranasal Sinus Abnormalities in Children with Primary Ciliary Dyskinesia Compared to Children with Cystic Fibrosis.
- Published in:
- Annals of the American Thoracic Society, 2024, v. 21, n. 3, p. 438, doi. 10.1513/AnnalsATS.202305-453OC
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- Publication type:
- Article
Longitudinal Magnetic Resonance Imaging Detects Onset and Progression of Chronic Rhinosinusitis from Infancy to School Age in Cystic Fibrosis.
- Published in:
- Annals of the American Thoracic Society, 2023, v. 20, n. 5, p. 687, doi. 10.1513/AnnalsATS.202209-763OC
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- Publication type:
- Article
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1878, doi. 10.1002/ajmg.a.38252
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- Publication type:
- Article
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1502, doi. 10.1002/ajmg.a.37632
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- Publication type:
- Article
Reduced cortical thickness in Heschl's gyrus as an in vivo marker for human primary auditory cortex.
- Published in:
- Human Brain Mapping, 2019, v. 40, n. 4, p. 1139, doi. 10.1002/hbm.24434
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- Publication type:
- Article
Neural Biomarkers for Dyslexia, ADHD, and ADD in the Auditory Cortex of Children.
- Published in:
- Frontiers in Neuroscience, 2016, p. 1, doi. 10.3389/fnins.2016.00324
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- Publication type:
- Article
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 7, p. 1764, doi. 10.1093/brain/awp112
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- Publication type:
- Article
Brain Magnetic Resonance Imaging Reveals Different Courses of Disease in Pediatric and Adult Cerebral Malaria.
- Published in:
- Clinical Infectious Diseases, 2021, v. 73, n. 7, p. e2387, doi. 10.1093/cid/ciaa1647
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- Publication type:
- Article
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screening.
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1343, doi. 10.1002/jimd.12436
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- Publication type:
- Article
Patterns, evolution, and severity of striatal injury in insidious‐ vs acute‐onset glutaric aciduria type 1.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 117, doi. 10.1002/jimd.12033
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- Publication type:
- Article
H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 829, doi. 10.1007/s10545-015-9826-8
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- Publication type:
- Article
Das Schädel-Hirn-Trauma des Kindes.
- Published in:
- Der Radiologe, 1999, v. 39, n. 6, p. 463, doi. 10.1007/s001170050535
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- Publication type:
- Article
Phase I/II intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma, or leukemia.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13148-019-0775-1
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- Publication type:
- Article
Stepwise accumulation of distinct genomic aberrations in a patient with progressively metastasizing ependymoma.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 3, p. 229, doi. 10.1002/gcc.20635
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- Publication type:
- Article
The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1.
- Published in:
- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00134
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- Publication type:
- Article
Heidelberg ETV score to assess success of ETV in patients with occlusive hydrocephalus: a retrospective single-center study.
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- Neurosurgical Review, 2023, v. 46, n. 1, p. 1, doi. 10.1007/s10143-023-02122-0
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- Publication type:
- Article
The association of COVID-19 pandemic with the increase of sinogenic and otogenic intracranial infections in children: a 10-year retrospective comparative single-center study.
- Published in:
- Neurosurgical Review, 2024, v. 47, n. 1, p. 1, doi. 10.1007/s10143-024-02442-9
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- Publication type:
- Article