Found: 21
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Serum N-Terminal Pro-B-Type Natriuretic Peptide (NTproBNP) Levels Are Elevated During the Acute Phase of Acute Encephalopathy-Associated Virus Infection.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 7, p. 823, doi. 10.1177/0883073814543304
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- Publication type:
- Article
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
- Published in:
- 2019
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- Publication type:
- journal article
Hippocampal damage after prolonged febrile seizure: One case in a consecutive prospective series.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 4, p. 837, doi. 10.1111/j.1528-1167.2010.02958.x
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- Publication type:
- Article
Response to: “Infantile spasms in Down syndrome responsive to phenobarbital”.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15109
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- Publication type:
- Article
A comparative analysis of children born with low birthweight and attention deficit hyperactivity disorder.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15298
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- Publication type:
- Article
Impacts of long-term coronavirus disease 2019 school closures on Japanese school children.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15131
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- Publication type:
- Article
Treatment outcomes for infantile spasms in Japanese children with Down syndrome.
- Published in:
- Pediatrics International, 2021, v. 63, n. 12, p. 1495, doi. 10.1111/ped.14668
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- Publication type:
- Article
Clinical features of long-term low-dose levetiracetam treatment for epilepsy.
- Published in:
- Pediatrics International, 2016, v. 58, n. 1, p. 40, doi. 10.1111/ped.12753
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- Publication type:
- Article
Incidence of febrile seizure in patients with Down syndrome.
- Published in:
- Pediatrics International, 2015, v. 57, n. 4, p. 670, doi. 10.1111/ped.12601
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- Publication type:
- Article
Delirious behavior or mild reduction of consciousness mimicking influenza-associated encephalopathy.
- Published in:
- Pediatrics International, 2014, v. 56, n. 2, p. 244, doi. 10.1111/ped.12240
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- Publication type:
- Article
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1264, doi. 10.1002/ajmg.a.38168
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- Publication type:
- Article
Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2078, doi. 10.1002/ajmg.a.36027
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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
Focal seizures during adrenocorticotropic hormone therapy in a school-aged boy: a case report.
- Published in:
- 2022
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- Publication type:
- journal article
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 5, p. 590, doi. 10.1111/cge.14292
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- Publication type:
- Article
Antioxidant action of a lipophilic nitroxyl radical, cyclohexane-1-spiro-2′-(4′-oxyimidazolidine-1′-oxyl)-5′-spiro-1″-cyclohexane, against lipid peroxidation under hypoxic conditions.
- Published in:
- Lipids, 2003, v. 38, n. 3, p. 225, doi. 10.1007/s11745-003-1055-3
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- Article
Actin mutations are one cause of congenital fibre type disproportion.
- Published in:
- Annals of Neurology, 2004, v. 56, n. 5, p. 689
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- Publication type:
- Article
A Case of Fundus Oculi Albinoticus Diagnosed as Angelman Syndrome by Genetic Testing.
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- Case Reports in Ophthalmology, 2018, v. 9, n. 1, p. 108, doi. 10.1159/000485964
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- Article
A Case of Hydranencephaly in Which Ophthalmic Examinations Were Performed.
- Published in:
- 2016
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- Publication type:
- Case Study
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3 -Congenital Disorders of Glycosylation and RP1 -Related Retinitis Pigmentosa.
- Published in:
- Genes, 2022, v. 13, n. 2, p. 359, doi. 10.3390/genes13020359
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- Publication type:
- Article
Multiple brain abscesses with good prognosis in an infant with cyanotic congenital heart disease: a case report.
- Published in:
- 2020
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- Publication type:
- journal article