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...

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

European journal of human genetics : EJHG, 2011-07, Vol.19 (7), p.776-782

2011

Volltextzugriff (PDF)

Atypical phenotypes in titinopathies explained by second titin mutations

Annals of neurology, 2014-02, Vol.75 (2), p.230-240

2014

Volltextzugriff (PDF)

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Neuromuscular disorders : NMD, 2011-08, Vol.21 (8), p.551-555

2011

Volltextzugriff (PDF)

Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers

Acta neuropathologica, 2010-04, Vol.119 (4), p.495-500

2010

Volltextzugriff (PDF)

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

Acta neuropathologica, 2010-04, Vol.119 (4), p.465-479

2010

Volltextzugriff (PDF)

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

Journal of neurology, 2011-06, Vol.258 (6), p.1157-1163

2011

Volltextzugriff (PDF)

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

Neurology, 2012-11, Vol.79 (22), p.2194-2200

2012

Volltextzugriff (PDF)

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

The Journal of clinical investigation, 2018-03, Vol.128 (3), p.1164-1177

2018

Volltextzugriff (PDF)

Erratum to: The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

Journal of neurology, 2010-04, Vol.257 (4), p.686-686

2010

Volltextzugriff (PDF)

Myasthenic congenital myopathy from recessive mutations at a single residue in Na V 1.4

Neurology, 2019-03, Vol.92 (13), p.e1405

2019

Volltextzugriff (PDF)

Differential Isoform Expression and Selective Muscle Involvement in Muscular Dystrophies

The American journal of pathology, 2015-10, Vol.185 (10), p.2833-2842

2015

Volltextzugriff (PDF)

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

Journal of neurology, 2012-10, Vol.259 (10), p.2090-2099

2012

Volltextzugriff (PDF)

Altered expression and splicing of Ca2+ metabolism genes in myotonic dystrophies DM1 and DM2

Neuropathology and applied neurobiology, 2013-06, Vol.39 (4), p.390-405

2013

Volltextzugriff (PDF)

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

Journal of neurology, 2008-11, Vol.255 (11), p.1731-1736

2008

Volltextzugriff (PDF)

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

Journal of neurology, 2010-04, Vol.257 (4), p.575-579

2010

Volltextzugriff (PDF)

Camptocormia as presenting sign in myofibrillar myopathy

Neuromuscular disorders : NMD, 2012-11, Vol.22 (11), p.987-989

2012

Volltextzugriff (PDF)

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

Journal of neuromuscular diseases, 2016-05, Vol.3 (2), p.275-281

2016

Volltextzugriff (PDF)

Population frequency of myotonic dystrophy

European journal of human genetics : EJHG, 2011-03

2011

Volltextzugriff (PDF)

TARDBP mutations are not a frequent cause of ALS in Finnish patients

Acta myologica, 2012-10, Vol.31 (2), p.134-138

2012

Volltextzugriff (PDF)

Myotonic dystrophy type 2 found in two of sixty‐three persons diagnosed as having fibromyalgia

Arthritis and rheumatism, 2008-11, Vol.58 (11), p.3627-3631

2008

Volltextzugriff (PDF)

The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients

Duodecim (Helsinki, Finland : 1961), 2013, Vol.129 (19), p.2011

2013

Volltextzugriff (PDF)

Microvascular Breast Reconstruction and Lymph Node Transfer for Postmastectomy Lymphedema Patients

Annals of surgery, 2012-03, Vol.255 (3), p.468-473

2012

Volltextzugriff (PDF)

Donor-Site Lymphatic Function after Microvascular Lymph Node Transfer

Plastic and reconstructive surgery (1963), 2012-12, Vol.130 (6), p.1246-1253

2012

Volltextzugriff (PDF)

1 – 25 von 111

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(102)
Mit Volltextzugriff
(99)

Publikationsform

Sprache

Englisch
(109)
Japanisch
(11)
Finnisch
(3)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Atypical phenotypes in titinopathies explained by second titin mutations

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers

Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics

TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations

Erratum to: The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

Myasthenic congenital myopathy from recessive mutations at a single residue in Na V 1.4

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/[beta]-Cardiac Myosin (MYH7) Distal Myopathy

Differential Isoform Expression and Selective Muscle Involvement in Muscular Dystrophies

Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

Altered expression and splicing of Ca2+ metabolism genes in myotonic dystrophies DM1 and DM2

High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation

Camptocormia as presenting sign in myofibrillar myopathy

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy

Population frequency of myotonic dystrophy

TARDBP mutations are not a frequent cause of ALS in Finnish patients

Myotonic dystrophy type 2 found in two of sixty‐three persons diagnosed as having fibromyalgia

The expanding spectrum of LGMD--recently discovered disease genes are important also in Finnish patients

Microvascular Breast Reconstruction and Lymph Node Transfer for Postmastectomy Lymphedema Patients

Donor-Site Lymphatic Function after Microvascular Lymph Node Transfer

Suchergebnisse filtern