Found: 22
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Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex.
- Published in:
- Journal of Neuro-Oncology, 2014, v. 118, n. 2, p. 205, doi. 10.1007/s11060-014-1429-y
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- Publication type:
- Article
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01214-2
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- Publication type:
- Article
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 40, doi. 10.1111/cge.14138
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- Publication type:
- Article
Erythropoietin with hypothermia improves outcomes in neonatal hypoxic ischemic encephalopathy.
- Published in:
- Journal of Clinical Neonatology, 2015, v. 4, n. 4, p. 244, doi. 10.4103/2249-4847.167413
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- Publication type:
- Article
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
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- Publication type:
- Article
Response to everolimus of a progressive plexiform neurofibroma in Neurofibromatosis type 1.
- Published in:
- 2020
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- Publication type:
- Case Study
Levodopa‐refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 431, doi. 10.1002/jimd.12658
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- Publication type:
- Article
Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1489, doi. 10.1002/jimd.12416
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- Publication type:
- Article
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 401, doi. 10.1002/jimd.12288
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- Publication type:
- Article
Klinefelter Syndrome and Neuroblastoma.
- Published in:
- Pediatric Blood & Cancer, 2011, v. 57, n. 4, p. 696, doi. 10.1002/pbc.23089
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- Publication type:
- Article
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 6, p. 559, doi. 10.1111/dmcn.12116
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- Publication type:
- Article
Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 12, p. 2155, doi. 10.1007/s00415-011-6079-9
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- Publication type:
- Article
Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 8, p. 1413, doi. 10.1007/s00415-011-5947-7
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- Publication type:
- Article
Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).
- Published in:
- Journal of Neurology, 2009, v. 256, n. 11, p. 1816, doi. 10.1007/s00415-009-5198-z
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- Publication type:
- Article
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
- Published in:
- Movement Disorders, 2021, v. 36, n. 3, p. 690, doi. 10.1002/mds.28362
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- Publication type:
- Article
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. 1361, doi. 10.1002/humu.24426
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- Publication type:
- Article
Simpson- Golabi- Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2-4 Duplication of the GPC 3 Gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1091, doi. 10.1002/ajmg.a.35738
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- Publication type:
- Article
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
- Published in:
- 2020
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- Publication type:
- journal article
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 1, p. 139, doi. 10.1111/epi.14609
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- Publication type:
- Article
Response to nimotuzumab in a child with a progressive diffuse intrinsic pontine glioma.
- Published in:
- Pediatrics International, 2011, v. 53, n. 2, p. 261, doi. 10.1111/j.1442-200X.2010.03220.x
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- Publication type:
- Article
Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.
- Published in:
- 2022
- By:
- Publication type:
- journal article