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...

Febrile infection-related Epilepsy Syndrome (FIRES): a severe encephalopathy with status epilepticus. Literature review and presentation of two new cases

Italian journal of pediatrics, 2022-12, Vol.48 (1), p.199-9, Article 199

2022

Volltextzugriff (PDF)

Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

Global medical genetics, 2023-12, Vol.10 (4), p.370-375

2023

Volltextzugriff (PDF)

A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report

Global medical genetics, 2023-09, Vol.10 (3), p.234-239

2023

Volltextzugriff (PDF)

Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review

Children (Basel), 2023-08, Vol.10 (8), p.1421

2023

Volltextzugriff (PDF)

Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review

Frontiers in pediatrics, 2023-09, Vol.11

2023

Volltextzugriff (PDF)

Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions

Frontiers in pediatrics, 2022-04, Vol.10, p.858945-858945

2022

Volltextzugriff (PDF)

Early Life Stress (ELS) Effects on Fetal and Adult Bone Development

Children (Basel), 2023-01, Vol.10 (1), p.102

2023

Volltextzugriff (PDF)

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability

Italian journal of pediatrics, 2022-02, Vol.48 (1), p.29-29, Article 29

2022

Volltextzugriff (PDF)

Diagnostic Tools in the Detection of Physical Child Abuse: A Systematic Review

Children (Basel), 2022-08, Vol.9 (8), p.1257

2022

Volltextzugriff (PDF)

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

Frontiers in pediatrics, 2020-09, Vol.8, p.550-550

2020

Volltextzugriff (PDF)

A novel GABRB3 variant in Dravet syndrome: Case report and literature review

Molecular genetics & genomic medicine, 2020-11, Vol.8 (11), p.e1461-n/a

2020

Volltextzugriff (PDF)

Low Prevalence of Neurologic and Psychiatric Manifestations in Children with Gluten Sensitivity

The Journal of pediatrics, 2008-02, Vol.152 (2), p.244-249.e1

2008

Volltextzugriff (PDF)

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1109-n/a

2020

Volltextzugriff (PDF)

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review

Medicine (Baltimore), 2022-08, Vol.101 (31), p.e29413

2022

Volltextzugriff (PDF)

A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment

Medicine (Baltimore), 2017-06, Vol.96 (26), p.e6814-e6814

2017

Volltextzugriff (PDF)

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome

Neurological sciences, 2022-11, Vol.43 (11), p.6529-6538

2022

Volltextzugriff (PDF)

Perrault syndrome: Evidence for progressive nervous system involvement

American journal of medical genetics. Part A, 2004-07, Vol.128A (3), p.246-249

2004

Volltextzugriff (PDF)

Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2

European journal of medical genetics, 2020-08, Vol.63 (8), p.103957-103957, Article 103957

2020

Volltextzugriff (PDF)

Severe Psychotic Symptoms in Youth with PANS/PANDAS: Case-Series

Journal of child and adolescent psychopharmacology, 2020-11, Vol.30 (9), p.567-571

2020

Volltextzugriff (PDF)

Congenital muscular dystrophy: from muscle to brain

Italian journal of pediatrics, 2016-08, Vol.42 (1), p.78-78, Article 78

2016

Volltextzugriff (PDF)

Hydranencephaly: cerebral spinal fluid instead of cerebral mantles

Italian journal of pediatrics, 2014-10, Vol.40 (1), p.79-79, Article 79

2014

Volltextzugriff (PDF)

Autoimmune neuropsychiatric disorders associated with streptococcal infection: Sydenham chorea, PANDAS, and PANDAS variants

Journal of child neurology, 2006-09, Vol.21 (9), p.727-736

2006

Volltextzugriff (PDF)

A Genomewide Screen for Autism Susceptibility Loci

American journal of human genetics, 2001-08, Vol.69 (2), p.327-340

2001

Volltextzugriff (PDF)

Anti-brain antibodies in PANDAS versus uncomplicated streptococcal infection

Pediatric neurology, 2004-02, Vol.30 (2), p.107-110

2004

Volltextzugriff (PDF)

Child Abuse Syndrome (CAS): A Newly Recognized Distinct Entity

The open neurology journal, 2016-06, Vol.10 (1), p.30-31

2016

Volltextzugriff (PDF)

1 – 25 von 79

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(68)
Mit Volltextzugriff
(74)

Publikationsform

Artikel
(73)
Berichte
(6)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Febrile infection-related Epilepsy Syndrome (FIRES): a severe encephalopathy with status epilepticus. Literature review and presentation of two new cases

Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report

Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review

Case report: Structural brain abnormalities in TUBA1A-tubulinopathies: a narrative review

Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions

Early Life Stress (ELS) Effects on Fetal and Adult Bone Development

Alternating Hemiplegia of Childhood: neurological comorbidities and intrafamilial variability

Diagnostic Tools in the Detection of Physical Child Abuse: A Systematic Review

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

A novel GABRB3 variant in Dravet syndrome: Case report and literature review

Low Prevalence of Neurologic and Psychiatric Manifestations in Children with Gluten Sensitivity

Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four‐member family and an unrelated boy

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review

A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome

Perrault syndrome: Evidence for progressive nervous system involvement

Long-term follow-up and novel genotype-phenotype analysis of monozygotic twins with ATP1A3 mutation in Alternating Hemiplegia of Childhood-2

Severe Psychotic Symptoms in Youth with PANS/PANDAS: Case-Series

Congenital muscular dystrophy: from muscle to brain

Hydranencephaly: cerebral spinal fluid instead of cerebral mantles

Autoimmune neuropsychiatric disorders associated with streptococcal infection: Sydenham chorea, PANDAS, and PANDAS variants

A Genomewide Screen for Autism Susceptibility Loci

Anti-brain antibodies in PANDAS versus uncomplicated streptococcal infection

Child Abuse Syndrome (CAS): A Newly Recognized Distinct Entity

Suchergebnisse filtern