Lista de obras - Barbara Steinborn - Dominio Público Uruguay

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

artículo científico publicado en 2016

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

artículo científico publicado en 2017

A transcript coding for a partially duplicated form of α7 nicotinic acetylcholine receptor is absent from the CD4+ T-lymphocytes of patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).

artículo científico publicado el 1 de enero de 2013

Achieving motor development milestones at the age of three months may determine, but does not guarantee, proper further development.

artículo científico publicado en 2013

Analysis of pharmacotherapy regimen and costs in patients with drug-resistant epilepsy following vagus nerve stimulation therapy: a single-center study (Poland)

artículo científico publicado en 2019

Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.

scientific article published on 11 September 2013

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

artículo científico publicado en 2021

Children with epilepsy against their healthy peers and those with headaches: Differences-similarities

artículo científico publicado en 2017

Cognitive functioning and behaviour of epileptic children in parents' assessment ⬇️

artículo científico publicado el 1 de septiembre de 2011

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

artículo científico publicado en 2018

Concentration of Il-1β, Il-2, Il-6, TNFα in the blood serum in children with generalized epilepsy treated by valproate

artículo científico publicado en 2014

Correspondence and cluster analysis of free-drawn clocks in a group of children and adolescents with neurological and psychiatric diseases.

artículo científico publicado en 2017

Cytokines, epilepsy and epileptic drugs--is there a mutual influence?

artículo científico publicado en 2007

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities

scientific article published on 23 October 2019

Economic and clinical evaluation of vagus nerve stimulation therapy

scientific article published on 20 June 2019

Efficacy and tolerability of adjunctive lacosamide in pediatric patients with focal seizures

scientific article published on 28 August 2019

History of pediatric neurology in Poland.

scientific article published on 15 July 2009

Homocysteine and asymmetric dimethylarginine (ADMA) in epilepsy

artículo científico publicado en 2009

Pattern of adverse events of antiepileptic drugs: results of the aESCAPE study in Poland

artículo científico publicado en 2013

Pediatric multiple sclerosis - current status of epidemiology, diagnosis and treatment

scientific article published on 17 September 2020

Prevalence of sleep problems in children with cerebral palsy. Preliminary study

artículo científico publicado en 2008

Recommendations of the Polish Medical Society of Radiology and the Polish Society of Neurology for a protocol concerning routinely used magnetic resonance imaging in patients with multiple sclerosis

scientific article published on 21 October 2020

Recommendations of the Polish Medical Society of Radiology and the Polish Society of Neurology for the routinely used magnetic resonance imaging protocol in patients with multiple sclerosis

artículo científico publicado en 2020

Red ear syndrome - case report and review of literature

artículo científico publicado en 2015

Selective serotonin reuptake inhibitors and periodic limb movements of sleep

artículo científico

Sensitivity and specificity of induction of psychogenic non-epileptic seizures in children and adolescents

scientific article published on 18 May 2020

Studies on the pharmacokinetics of total and free valproate in mono- and bitherapy with carbamazepine in epileptic children and adolescents.

artículo científico publicado en 2002

Temporomandibular disorders in adolescents with headache.

artículo científico publicado en 2018

The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy.

artículo científico publicado en 2009

The assessment of laboratory parameters in children with fever and febrile seizures.

artículo científico publicado en 2017

The assessment of risk factors for febrile seizures in children

artículo científico publicado en 2017

Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.

artículo científico publicado en 2010

Treatment of pediatric epilepsy in Poland.

artículo científico publicado en 2015

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family

scientific article published on 01 April 2020

[Smoking in the aspect of wholesome behaviors in adolescents]

artículo científico publicado en 2007

[The impact of smoking cigarettes on insomnia and excessive daytime sleepiness symptoms among teachers]

scientific article published on 01 January 2007

Lista de obras de Barbara Steinborn

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

A transcript coding for a partially duplicated form of α7 nicotinic acetylcholine receptor is absent from the CD4+ T-lymphocytes of patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).

Achieving motor development milestones at the age of three months may determine, but does not guarantee, proper further development.

Analysis of pharmacotherapy regimen and costs in patients with drug-resistant epilepsy following vagus nerve stimulation therapy: a single-center study (Poland)

Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

Children with epilepsy against their healthy peers and those with headaches: Differences-similarities

Cognitive functioning and behaviour of epileptic children in parents' assessment ⬇️

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

Concentration of Il-1β, Il-2, Il-6, TNFα in the blood serum in children with generalized epilepsy treated by valproate

Correspondence and cluster analysis of free-drawn clocks in a group of children and adolescents with neurological and psychiatric diseases.

Cytokines, epilepsy and epileptic drugs--is there a mutual influence?

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities

Economic and clinical evaluation of vagus nerve stimulation therapy

Efficacy and tolerability of adjunctive lacosamide in pediatric patients with focal seizures

History of pediatric neurology in Poland.

Homocysteine and asymmetric dimethylarginine (ADMA) in epilepsy

Pattern of adverse events of antiepileptic drugs: results of the aESCAPE study in Poland

Pediatric multiple sclerosis - current status of epidemiology, diagnosis and treatment

Prevalence of sleep problems in children with cerebral palsy. Preliminary study

Recommendations of the Polish Medical Society of Radiology and the Polish Society of Neurology for a protocol concerning routinely used magnetic resonance imaging in patients with multiple sclerosis

Recommendations of the Polish Medical Society of Radiology and the Polish Society of Neurology for the routinely used magnetic resonance imaging protocol in patients with multiple sclerosis

Red ear syndrome - case report and review of literature

Selective serotonin reuptake inhibitors and periodic limb movements of sleep

Sensitivity and specificity of induction of psychogenic non-epileptic seizures in children and adolescents

Studies on the pharmacokinetics of total and free valproate in mono- and bitherapy with carbamazepine in epileptic children and adolescents.

Temporomandibular disorders in adolescents with headache.

The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy.

The assessment of laboratory parameters in children with fever and febrile seizures.

The assessment of risk factors for febrile seizures in children

Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.

Treatment of pediatric epilepsy in Poland.

Variety of symptoms of GLUT1 deficiency syndrome in three-generation family

[Smoking in the aspect of wholesome behaviors in adolescents]

[The impact of smoking cigarettes on insomnia and excessive daytime sleepiness symptoms among teachers]