UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Diagnostic yield and treatment impact of whole‐genome sequencing in paediatric neurological disorders

Developmental medicine and child neurology, 2021-08, Vol.63 (8), p.934-938

2021

Volltextzugriff (PDF)

Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l‐amino acid decarboxylase deficiency

Human mutation, 2018-12, Vol.39 (12), p.2072-2082

2018

Volltextzugriff (PDF)

Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children

Brain & development (Tokyo. 1979), 2020-05, Vol.42 (5), p.393-401

2020

Volltextzugriff (PDF)

Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

Life (Basel, Switzerland), 2021-10, Vol.11 (11), p.1111

2021

Volltextzugriff (PDF)

SCN8A Encephalopathy: Case Report and Literature Review

Neurology international, 2021-04, Vol.13 (2), p.143-150

2021

Volltextzugriff (PDF)

Early cardiac involvement in an infantile Sandhoff disease case with novel mutations

Brain & development (Tokyo. 1979), 2017-02, Vol.39 (2), p.171-176

2017

Volltextzugriff (PDF)

Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature Review

Brain sciences, 2022-09, Vol.12 (9), p.1262

2022

Volltextzugriff (PDF)

Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation

Human genetics, 2023-08, Vol.142 (8), p.1029-1041

2023

Volltextzugriff (PDF)

Febrile infection-related epilepsy syndrome (FIRES): therapeutic complications, long-term neurological and neuroimaging follow-up

Seizure (London, England), 2018-03, Vol.56, p.53-59

2018

Volltextzugriff (PDF)

Targeting New Candidate Genes by Small Molecules Approaching Neurodegenerative Diseases

International Journal of Molecular Sciences, 2016-01, Vol.17 (1), p.26-26

2016

Volltextzugriff (PDF)

Prenatal brain disruption in isolated sulfite oxidase deficiency

Orphanet journal of rare diseases, 2017-06, Vol.12 (1), p.115-115, Article 115

2017

Volltextzugriff (PDF)

Congenital disorders of glycosylation and infantile epilepsy

Epilepsy & behavior, 2023-05, Vol.142, p.109214-109214, Article 109214

2023

Volltextzugriff (PDF)

Epileptic seizure in primary intracranial sarcoma: a case report and literature review

Child's nervous system, 2016-09, Vol.32 (9), p.1709-1714

2016

Volltextzugriff (PDF)

Long-Term Outcome of Pediatric Patients with Anti-NMDA Receptor Encephalitis in a Single Center

Children (Basel), 2023-01, Vol.10 (2), p.182

2023

Volltextzugriff (PDF)

Electroencephalographic features of patients with SCN1A-positive Dravet syndrome

Brain & development (Tokyo. 1979), 2015-06, Vol.37 (6), p.599-611

2015

Volltextzugriff (PDF)

Risk of SUDEP during infancy

Epilepsy & behavior, 2022-06, Vol.131 (Pt B), p.107896-107896, Article 107896

2022

Volltextzugriff (PDF)

Catecholamine-Induced Secondary Takotsubo Syndrome in Children With Severe Enterovirus 71 Infection and Acute Heart Failure: A 20-year Experience of a Single Institute

Frontiers in cardiovascular medicine, 2021-09, Vol.8, p.752232-752232

2021

Volltextzugriff (PDF)

Use of cooking oils in a 2:1 ratio classical ketogenic diet for intractable pediatric epilepsy: Long-term effectiveness and tolerability

Epilepsy research, 2018-11, Vol.147, p.75-79

2018

Volltextzugriff (PDF)

Modality and Children’s Scope Understanding

Journal of psycholinguistic research, 2014-10, Vol.43 (5), p.487-506

2014

Volltextzugriff (PDF)

Leigh Syndrome: Clinical and Neuroimaging Follow-Up

Pediatric neurology, 2009-02, Vol.40 (2), p.88-93

2009

Volltextzugriff (PDF)

The Impact of Anti-Epileptic Drugs on Growth and Bone Metabolism

International journal of molecular sciences, 2016-08, Vol.17 (8), p.1242-1242

2016

Volltextzugriff (PDF)

Tyrosine Hydroxylase Deficiency in Taiwanese Infants

Pediatric neurology, 2012-02, Vol.46 (2), p.77-82

2012

Volltextzugriff (PDF)

Genotype-Phenotype Dissociation in Two Taiwanese Children with Molybdenum Cofactor Deficiency Caused by MOCS2 Mutation

Neuropediatrics, 2022-06, Vol.53 (3), p.200-203

2022

Volltextzugriff (PDF)

Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous pathogenic variant-related developmental and epileptic encephalopathy

Clinical neurology and neurosurgery, 2022-03, Vol.214, p.107142-107142, Article 107142

2022

Volltextzugriff (PDF)

Epileptic Seizures in Infants and Children With Mitochondrial Diseases

Pediatric neurology, 2011-09, Vol.45 (3), p.169-174

2011

Volltextzugriff (PDF)

1 – 25 von 117

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(103)
Mit Volltextzugriff
(101)

Publikationsform

Sprache

Englisch
(113)
Chinesisch
(5)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Diagnostic yield and treatment impact of whole‐genome sequencing in paediatric neurological disorders

Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l‐amino acid decarboxylase deficiency

Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children

Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes

SCN8A Encephalopathy: Case Report and Literature Review

Early cardiac involvement in an infantile Sandhoff disease case with novel mutations

Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature Review

Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation

Febrile infection-related epilepsy syndrome (FIRES): therapeutic complications, long-term neurological and neuroimaging follow-up

Targeting New Candidate Genes by Small Molecules Approaching Neurodegenerative Diseases

Prenatal brain disruption in isolated sulfite oxidase deficiency

Congenital disorders of glycosylation and infantile epilepsy

Epileptic seizure in primary intracranial sarcoma: a case report and literature review

Long-Term Outcome of Pediatric Patients with Anti-NMDA Receptor Encephalitis in a Single Center

Electroencephalographic features of patients with SCN1A-positive Dravet syndrome

Risk of SUDEP during infancy

Catecholamine-Induced Secondary Takotsubo Syndrome in Children With Severe Enterovirus 71 Infection and Acute Heart Failure: A 20-year Experience of a Single Institute

Use of cooking oils in a 2:1 ratio classical ketogenic diet for intractable pediatric epilepsy: Long-term effectiveness and tolerability

Modality and Children’s Scope Understanding

Leigh Syndrome: Clinical and Neuroimaging Follow-Up

The Impact of Anti-Epileptic Drugs on Growth and Bone Metabolism

Tyrosine Hydroxylase Deficiency in Taiwanese Infants

Genotype-Phenotype Dissociation in Two Taiwanese Children with Molybdenum Cofactor Deficiency Caused by MOCS2 Mutation

Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous pathogenic variant-related developmental and epileptic encephalopathy

Epileptic Seizures in Infants and Children With Mitochondrial Diseases

Suchergebnisse filtern