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Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.
- Published in:
- Neuropathology, 2013, v. 33, n. 5, p. 553, doi. 10.1111/neup.12007
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- Publication type:
- Article
Neurochemistry in shiverer mouse depicted on MR spectroscopy.
- Published in:
- Journal of Magnetic Resonance Imaging, 2014, v. 39, n. 6, p. 1550, doi. 10.1002/jmri.24306
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- Publication type:
- Article
Increased N-acetylaspartate in model mouse of Pelizaeus-Merzbacher disease.
- Published in:
- 2012
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- Publication type:
- journal article
Increased N-acetylaspartate in model mouse of pelizaeus-merzbacher disease.
- Published in:
- Journal of Magnetic Resonance Imaging, 2012, v. 35, n. 2, p. 418, doi. 10.1002/jmri.22817
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- Publication type:
- Article
Metabolic changes in early childhood using LCModel with corrected water scaling method.
- Published in:
- Journal of Magnetic Resonance Imaging, 2012, v. 35, n. 1, p. 174, doi. 10.1002/jmri.22802
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- Publication type:
- Article
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly.
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- Annals of Neurology, 2013, v. 73, n. 1, p. 48, doi. 10.1002/ana.23736
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- Publication type:
- Article
γ-Irradiation Deregulates Cell Cycle Control and Apoptosis in Nevoid Basal Cell Carcinoma Syndrome-derived Cells.
- Published in:
- Cancer Science, 1999, v. 90, n. 12, p. 1351, doi. 10.1111/j.1349-7006.1999.tb00719.x
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- Publication type:
- Article
Grain Growth and Endosperm Cell Size Under High Night Temperatures in Rice (Oryza sativa L.).
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- Annals of Botany, 2005, v. 95, n. 4, p. 695, doi. 10.1093/aob/mci071
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- Publication type:
- Article
Case of autoimmune glial fibrillary acidic protein astrocytopathy associated with Epstein–Barr virus reactivation.
- Published in:
- Clinical & Experimental Neuroimmunology, 2022, v. 13, n. 2, p. 106, doi. 10.1111/cen3.12659
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- Publication type:
- Article
In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.
- Published in:
- Molecular Brain, 2016, v. 9, p. 1, doi. 10.1186/s13041-016-0246-y
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- Publication type:
- Article
Disrupted glutamate-glutamine cycle in acute encephalopathy with biphasic seizures and late reduced diffusion.
- Published in:
- Neuroradiology, 2015, v. 57, n. 11, p. 1163, doi. 10.1007/s00234-015-1573-x
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- Publication type:
- Article
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
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- Clinical Genetics, 2017, v. 92, n. 2, p. 180, doi. 10.1111/cge.12991
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- Publication type:
- Article
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.
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- Journal of Neurology, 2014, v. 261, n. 4, p. 752, doi. 10.1007/s00415-014-7263-5
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- Publication type:
- Article
A Brain Morphometry Study with Across-Site Harmonization Using a ComBat-Generalized Additive Model in Children and Adolescents.
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- Diagnostics (2075-4418), 2023, v. 13, n. 17, p. 2774, doi. 10.3390/diagnostics13172774
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- Publication type:
- Article
C5orf42 is the major gene responsible for OFD syndrome type VI.
- Published in:
- Human Genetics, 2014, v. 133, n. 3, p. 367, doi. 10.1007/s00439-013-1385-1
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- Publication type:
- Article
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
- Published in:
- Human Genetics, 2012, v. 131, n. 1, p. 99, doi. 10.1007/s00439-011-1047-0
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- Publication type:
- Article
Electrical impedance tomography for evaluating child respiratory rehabilitation.
- Published in:
- 2023
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- Publication type:
- Case Study
Spontaneous tracheal rupture caused by acute asthma exacerbation.
- Published in:
- 2021
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- Publication type:
- Case Study
Prevalence and characteristics of human parechovirus and enterovirus infection in febrile infants.
- Published in:
- Pediatrics International, 2018, v. 60, n. 2, p. 142, doi. 10.1111/ped.13467
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- Publication type:
- Article
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181791
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- Publication type:
- Article
Magnetic resonance imaging confirms periventricular venous infarction in a term-born child with congenital hemiplegia.
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- Developmental Medicine & Child Neurology, 2005, v. 47, n. 10, p. 706, doi. 10.1017/S0012162205001441
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- Publication type:
- Article
Periventricular haemosiderin deposition in patients with congenital hemiplegia.
- Published in:
- 1995
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- Publication type:
- journal article
Author reply to "Onycholysis associated with Kawasaki disease: A comment on characteristic nail lesions in Kawasaki disease: Case series and literature review".
- Published in:
- Journal of Dermatology, 2022, v. 49, n. 8, p. e293, doi. 10.1111/1346-8138.16408
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- Publication type:
- Article
Characteristic nail lesions in Kawasaki disease: Case series and literature review.
- Published in:
- Journal of Dermatology, 2022, v. 49, n. 2, p. 232, doi. 10.1111/1346-8138.16276
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- Publication type:
- Article
Vital Signs as Predictor Factors of Intravenous Immunoglobulin Resistance in Patients With Kawasaki Disease.
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- Clinical Pediatrics, 2018, v. 57, n. 10, p. 1148, doi. 10.1177/0009922818759320
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- Publication type:
- Article
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2245, doi. 10.1002/ajmg.a.63229
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- Publication type:
- Article
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2234, doi. 10.1002/ajmg.a.36072
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- Publication type:
- Article
Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3112, doi. 10.1002/ajmg.a.35640
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- Publication type:
- Article
Neuroimaging in acute infection-triggered encephalopathy syndromes.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1235364
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- Publication type:
- Article
Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2.
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- Frontiers in Neuroscience, 2023, v. 17, p. 1, doi. 10.3389/fnins.2023.1085082
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- Publication type:
- Article
Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations.
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- Annals of Neurology, 1999, v. 45, n. 5, p. 624, doi. 10.1002/1531-8249(199905)45:5<624::AID-ANA11>3.0.CO;2-1
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- Publication type:
- Article
Clinical Pictures in Pelizaeus-Merzbacher Disease: A Report of a Case.
- Published in:
- 2015
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- Publication type:
- Case Study
14-3-3 Protein Detection in the Cerebrospinal Fluid of Patients With Influenza-Associated Encephalopathy.
- Published in:
- Journal of Child Neurology, 2006, v. 21, n. 7, p. 562, doi. 10.1177/08830738060210070502
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- Publication type:
- Article
Finger Cold-Induced Vasodilatation, Sympathetic Skin Response, and R-R Interval Variation in Patients With Progressive Spinal Muscular Atrophy.
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- Journal of Child Neurology, 2005, v. 20, n. 11, p. 871, doi. 10.1177/08830738050200110301
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- Publication type:
- Article
Recurrent Meningitis Associated With a Petrous Apex Cephalocele.
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- Journal of Child Neurology, 2005, v. 20, n. 2, p. 168, doi. 10.1177/08830738050200021801
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- Publication type:
- Article
Episodic Hyponatremia in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS).
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- Journal of Child Neurology, 2005, v. 20, n. 2, p. 116, doi. 10.1177/08830738050200020601
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- Publication type:
- Article
A Case of Acute Disseminated Encephalomyelitis Presenting Hypersomnia With Decreased Hypocretin Level in Cerebrospinal Fluid.
- Published in:
- Journal of Child Neurology, 2002, v. 17, n. 7, p. 537, doi. 10.1177/088307380201700713
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- Publication type:
- Article