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...

Collagen VI related muscle disorders

Journal of Medical Genetics, 2005-09, Vol.42 (9), p.673-685

2005

Volltextzugriff (PDF)

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

Journal of neurology, neurosurgery and psychiatry, 2013-06, Vol.84 (6), p.698-705

2013

Volltextzugriff (PDF)

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

Journal of neurology, neurosurgery and psychiatry, 2016-06, Vol.87 (6), p.680-681

2016

Volltextzugriff (PDF)

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Journal of medical genetics, 2005-02, Vol.42 (2), p.108-120

2005

Volltextzugriff (PDF)

New aspects on patients affected by dysferlin deficient muscular dystrophy

Journal of neurology, neurosurgery and psychiatry, 2010-09, Vol.81 (9), p.946-953

2010

Volltextzugriff (PDF)

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

Journal of medical genetics, 2000-10, Vol.37 (10), p.759-765

2000

Volltextzugriff (PDF)

Hereditary spastic paraparesis: a review of new developments

Journal of Neurology, Neurosurgery and Psychiatry, 2000-08, Vol.69 (2), p.150-160

2000

Volltextzugriff (PDF)

Improving recognition of Duchenne muscular dystrophy: a retrospective case note review

Archives of disease in childhood, 2014-12, Vol.99 (12), p.1074-1077

2014

Volltextzugriff (PDF)

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

Journal of neurology, neurosurgery and psychiatry, 2016-02, Vol.87 (2), p.149-155

2016

Volltextzugriff (PDF)

Centiles for adult head circumference

Archives of disease in childhood, 1992-10, Vol.67 (10), p.1286-1287

1992

Volltextzugriff (PDF)

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

Journal of neurology, neurosurgery and psychiatry, 2014-03, Vol.85 (3), p.331-338

2014

Volltextzugriff (PDF)

Becker and Duchenne muscular dystrophy: a two-way information process for therapies

Journal of neurology, neurosurgery and psychiatry, 2014-01, Vol.85 (1), p.5-6

2014

Volltextzugriff (PDF)

Hypercalcaemia in infancy; a presenting feature of spinal muscular atrophy

Archives of disease in childhood, 2004-04, Vol.89 (4), p.384-385

2004

Volltextzugriff (PDF)

097 Valosin Containing Protein (VCP) and Myofibrillar Myopathies (MFM) genes' mutations are not associated with sporadic Inclusion Body Myositis (sIBM)

Journal of neurology, neurosurgery and psychiatry, 2012-03, Vol.83 (3), p.e1-e1

2012

Volltextzugriff (PDF)

165 Novel ANO5 gene mutations, c.989dupT and c.2018A→G causing Limb Girdle Muscular dystrophy 2L

Journal of neurology, neurosurgery and psychiatry, 2012-03, Vol.83 (3), p.e1-e1

2012

Volltextzugriff (PDF)

165 Novel ANO5 gene mutations, c.989dupT and c.2018A arrow right G causing Limb Girdle Muscular dystrophy 2L

Journal of neurology, neurosurgery and psychiatry, 2012-01, Vol.83 (3), p.e1-e1

2012

Volltextzugriff (PDF)

Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy

Archives of disease in childhood, 1993-05, Vol.68 (5), p.632-636

1993

Volltextzugriff (PDF)

1106 The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome

Journal of neurology, neurosurgery and psychiatry, 2012-03, Vol.83 (3), p.e1-e1

2012

Volltextzugriff (PDF)

Recent advances in understanding muscular dystrophy

Archives of disease in childhood, 1992-10, Vol.67 (10), p.1310-1312

Bushby, K M

1992

Volltextzugriff (PDF)

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families

Journal of medical genetics, 1996-02, Vol.33 (2), p.97-102

1996

Volltextzugriff (PDF)

Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion?

Journal of medical genetics, 1997-11, Vol.34 (11), p.958-959

1997

Volltextzugriff (PDF)

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis

Journal of medical genetics, 1993-09, Vol.30 (9), p.745-751

1993

Volltextzugriff (PDF)

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame

Journal of medical genetics, 1992-12, Vol.29 (12), p.892-896

1992

Volltextzugriff (PDF)

Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

Journal of medical genetics, 1997, Vol.34 (2), p.99-104

1997

Volltextzugriff (PDF)

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups

Journal of medical genetics, 1993-09, Vol.30 (9), p.728-736

1993

Volltextzugriff (PDF)

1 – 25 von 34

Suche als RSS-Feed

Aktive Filter

KollektionBMJ Journals Archiv - DFG Nationallizenzen

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(34)
Mit Volltextzugriff
(33)

Publikationsform

Artikel
(32)
Reviews
(2)

Sprache

Englisch
(34)

Erscheinungsjahr

n.n

Thema

Humans
(22)
Life Sciences & Biomedicine
(19)
Science & Technology
(19)
Male
(16)
Biological And Medical Sciences
(15)
Medical Sciences
(14)
Neurology
(14)
Female
(12)
Adolescent
(11)
Child
(11)
Diseases Of Striated Muscles. Neuromuscular Diseases
(10)
Muscular Dystrophies - Genetics
(10)
Muscular Dystrophy
(10)
Mutation
(10)
Adult
(9)
Biopsy
(8)
Clinical Neurology
(8)
Neurosciences & Neurology
(8)
Psychiatry
(8)
Surgery
(8)

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

Zeitschrift / Serie

1 weiteren anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Collagen VI related muscle disorders

Long-term benefits and adverse effects of intermittent versus daily glucocorticoids in boys with Duchenne muscular dystrophy

Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

New aspects on patients affected by dysferlin deficient muscular dystrophy

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

Hereditary spastic paraparesis: a review of new developments

Improving recognition of Duchenne muscular dystrophy: a retrospective case note review

The NorthStar Ambulatory Assessment in Duchenne muscular dystrophy: considerations for the design of clinical trials

Centiles for adult head circumference

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

Becker and Duchenne muscular dystrophy: a two-way information process for therapies

Hypercalcaemia in infancy; a presenting feature of spinal muscular atrophy

097 Valosin Containing Protein (VCP) and Myofibrillar Myopathies (MFM) genes' mutations are not associated with sporadic Inclusion Body Myositis (sIBM)

165 Novel ANO5 gene mutations, c.989dupT and c.2018A→G causing Limb Girdle Muscular dystrophy 2L

165 Novel ANO5 gene mutations, c.989dupT and c.2018A arrow right G causing Limb Girdle Muscular dystrophy 2L

Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy

1106 The clinical phenotypic spectrum of GFPT1 associated congenital myasthenic syndrome

Recent advances in understanding muscular dystrophy

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families

Limb-girdle muscular dystrophy or spinal muscular atrophy: a source of diagnostic confusion?

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis

Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame

Refinement of the laminin α2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups

Aktive Filter

Suchergebnisse filtern