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...

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem

Neurology, 2003-12, Vol.61 (11), p.1475-1478

2003

Volltextzugriff (PDF)

Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy

Genetics in medicine, 2012-08, Vol.14 (8), p.757-758

2012

Volltextzugriff (PDF)

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

Journal of human genetics, 2015-03, Vol.60 (3), p.151-155

2015

Volltextzugriff (PDF)

5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report

Journal of child neurology, 2010-10, Vol.25 (10), p.1232-1235

2010

Volltextzugriff (PDF)

Microarray Analysis in Children With Developmental Disorder or Epilepsy

Pediatric neurology, 2010-12, Vol.43 (6), p.391-394

2010

Volltextzugriff (PDF)

Efficacy and Tolerability of Topiramate in Pediatric Migraine

Pediatric neurology, 2009-09, Vol.41 (3), p.167-170

2009

Volltextzugriff (PDF)

Spinocerebellar ataxia type 7 mimicking Kearns–Sayre syndrome: A clinical diagnosis is desirable

Journal of the neurological sciences, 2008-01, Vol.264 (1), p.173-176

2008

Volltextzugriff (PDF)

Sleep Study Abnormalities in Children With Attention Deficit Hyperactivity Disorder

Pediatric neurology, 2009, Vol.40 (1), p.42-46

2009

Volltextzugriff (PDF)

Oxcarbazepine Monotherapy in Children and Adolescents: A Single-Center Clinical Experience

Pediatric neurology, 2006-10, Vol.35 (4), p.235-239

2006

Volltextzugriff (PDF)

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 ( PMP22 ) gene

Nature genetics, 1993-11, Vol.5 (3), p.269-273

1993

Volltextzugriff (PDF)

A PLP splicing abnormality is associated with an unusual presentation of PMD

Annals of neurology, 2002-10, Vol.52 (4), p.477-488

2002

Volltextzugriff (PDF)

Efficacy and safety of lamotrigine monotherapy in children and adolescents with epilepsy

European journal of paediatric neurology, 2009-03, Vol.13 (2), p.141-145

2009

Volltextzugriff (PDF)

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Human molecular genetics, 2014-02, Vol.23 (4), p.980-991

2014

Volltextzugriff (PDF)

Treatment of Drop Attacks in Coffin-Lowry Syndrome With the Use of Sodium Oxybate

Pediatric neurology, 2007-11, Vol.37 (5), p.373-374

2007

Volltextzugriff (PDF)

The rumpshaker mutation in spastic paraplegia

Nature genetics, 1994-07, Vol.7 (3), p.351-352

1994

Volltextzugriff (PDF)

Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis

Biomarkers in medicine, 2015-10, Vol.9 (10), p.957-965

2015

Volltextzugriff (PDF)

MR Imaging Findings in Children with Merosin-Deficient Congenital Muscular Dystrophy

American journal of neuroradiology : AJNR, 1999-02, Vol.20 (2), p.324-326

1999

Volltextzugriff (PDF)

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Brain (London, England : 1878), 2009-11, Vol.132 (11), p.3165-3174

2009

Volltextzugriff (PDF)

Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy

Molecular genetics and metabolism, 2012-03, Vol.105 (3), p.457-462

2012

Volltextzugriff (PDF)

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Clinical genetics, 2014-04, Vol.85 (4), p.393-395

2014

Volltextzugriff (PDF)

Subacute Sclerosing Panencephalitis (SSPE) Presenting as Acute Disseminated Encephalomyelitis in a Child

Journal of child neurology, 2009-07, Vol.24 (7), p.899-903

2009

Volltextzugriff (PDF)

Effect of Triplet Repeat Expansion on Chromatin Structure and Expression of DMPK and Neighboring Genes, SIX5 and DMWD, in Myotonic Dystrophy

Molecular genetics and metabolism, 2001-09, Vol.74 (1-2), p.281-291

2001

Volltextzugriff (PDF)

A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease

Human mutation, 2001-02, Vol.17 (2), p.152-152

2001

Volltextzugriff (PDF)

Response to Correspondence on ‘‘5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report’’

Journal of child neurology, 2011-05, Vol.26 (5), p.660-661

2011

Volltextzugriff (PDF)

Environmental factors preceding illness onset differ in phenotypes of the juvenile idiopathic inflammatory myopathies

Rheumatology (Oxford, England), 2010-12, Vol.49 (12), p.2381-2390

2010

Volltextzugriff (PDF)

1 – 25 von 495

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(387)
Mit Volltextzugriff
(350)

Publikationsform

4 weitere anzeigen...

Weniger anzeigen...

Sprache

Englisch
(492)
Deutsch
(2)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(9)

Menü

Weitere Dienste

Einstellungen

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem

Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report

Microarray Analysis in Children With Developmental Disorder or Epilepsy

Efficacy and Tolerability of Topiramate in Pediatric Migraine

Spinocerebellar ataxia type 7 mimicking Kearns–Sayre syndrome: A clinical diagnosis is desirable

Sleep Study Abnormalities in Children With Attention Deficit Hyperactivity Disorder

Oxcarbazepine Monotherapy in Children and Adolescents: A Single-Center Clinical Experience

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 ( PMP22 ) gene

A PLP splicing abnormality is associated with an unusual presentation of PMD

Efficacy and safety of lamotrigine monotherapy in children and adolescents with epilepsy

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease

Treatment of Drop Attacks in Coffin-Lowry Syndrome With the Use of Sodium Oxybate

The rumpshaker mutation in spastic paraplegia

Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis

MR Imaging Findings in Children with Merosin-Deficient Congenital Muscular Dystrophy

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Subacute Sclerosing Panencephalitis (SSPE) Presenting as Acute Disseminated Encephalomyelitis in a Child

Effect of Triplet Repeat Expansion on Chromatin Structure and Expression of DMPK and Neighboring Genes, SIX5 and DMWD, in Myotonic Dystrophy

A new polymorphism in the proteolipid protein (PLP1) gene and its use for carrier detection of PLP1 gene duplication in Pelizaeus-Merzbacher disease

Response to Correspondence on ‘‘5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report’’

Environmental factors preceding illness onset differ in phenotypes of the juvenile idiopathic inflammatory myopathies

Suchergebnisse filtern