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...

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

Neuromuscular disorders : NMD, 2014-11, Vol.24 (11), p.986-989

2014

Volltextzugriff (PDF)

The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies

Human molecular genetics, 1996-12, Vol.5 (12), p.1963-1969

1996

Volltextzugriff (PDF)

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations

Journal of medical genetics, 2003-02, Vol.40 (2), p.e12-12

2003

Volltextzugriff (PDF)

Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E)

Human molecular genetics, 1996-12, Vol.5 (12), p.1953-1961

1996

Volltextzugriff (PDF)

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population

Journal of the neurological sciences, 1999-03, Vol.164 (1), p.44-49

1999

Volltextzugriff (PDF)

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype

Journal of medical genetics, 2004-02, Vol.41 (2), p.e17-17

2004

Volltextzugriff (PDF)

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

Human molecular genetics, 1995-03, Vol.4 (3), p.401-406

1995

Volltextzugriff (PDF)

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

Neuromuscular disorders : NMD, 2004-05, Vol.14 (5), p.313-320

2004

Volltextzugriff (PDF)

Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations

Neuropediatrics, 1995-12, Vol.26 (6), p.293-297

1995

Volltextzugriff (PDF)

Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?

Human molecular genetics, 1993-01, Vol.2 (1), p.39-42

1993

Volltextzugriff (PDF)

Partial α‐sarcoglycan deficiency with retention of the dystrophin‐glycoprotein complex in a LGMD2D family

Muscle & nerve, 2000-06, Vol.23 (6), p.984-988

2000

Volltextzugriff (PDF)

Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study

Journal of the neurological sciences, 1990-09, Vol.98 (2), p.221-233

1990

Volltextzugriff (PDF)

Is dystrophin always altered in Becker muscular dystrophy patients?

Journal of the neurological sciences, 1995-07, Vol.131 (1), p.99-104

1995

Volltextzugriff (PDF)

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

Journal of the neurological sciences, 1991-04, Vol.102 (2), p.190-196

1991

Volltextzugriff (PDF)

A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriers

Journal of medical genetics, 1992-07, Vol.29 (7), p.476-479

1992

Volltextzugriff (PDF)

assessment of t 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy

Journal of the neurological sciences, 1994, Vol.123 (1-2), p.122-128

1994

Volltextzugriff (PDF)

Immunofluorescence dystrophy study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal regiona of the protein

Journal of the neurological sciences, 1991, Vol.101 (2), p.141-147

1991

Volltextzugriff (PDF)

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females

American journal of medical genetics, 1998-05, Vol.77 (2), p.155-161

1998

Volltextzugriff (PDF)

Genetic counseling for childless women at risk for Duchenne muscular dystrophy

American journal of medical genetics, 1999-10, Vol.86 (5), p.447-453

1999

Volltextzugriff (PDF)

Rivaroxaban in Patients with Atrial Fibrillation and a Bioprosthetic Mitral Valve

The New England journal of medicine, 2020-11, Vol.383 (22), p.2117-2126

2020

Volltextzugriff (PDF)

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

Human molecular genetics, 2014-08, Vol.23 (15), p.4103-4110

2014

Volltextzugriff (PDF)

Single-chip microprocessor that communicates directly using light

Nature (London), 2015-12, Vol.528 (7583), p.534-538

2015

Volltextzugriff (PDF)

Appropriateness of statin prescription in the elderly

European journal of internal medicine, 2018-04, Vol.50, p.33-40

2018

Volltextzugriff (PDF)

Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

Disease models & mechanisms, 2020-02, Vol.13 (2)

2020

Volltextzugriff (PDF)

Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies

American journal of medical genetics, 1991-04, Vol.39 (1), p.38-41

1991

Volltextzugriff (PDF)

1 – 25 von 164

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(106)
Mit Volltextzugriff
(108)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(100)
Humans
(77)
Life Sciences & Biomedicine
(68)
Male
(61)
Female
(47)
Biological And Medical Sciences
(40)
Adult
(36)
Medical Sciences
(36)
Neurology
(31)
Genetics & Heredity
(30)
Physical Sciences
(30)
Engineering
(29)
Engineering, Electrical & Electronic
(29)
Technology
(29)
Child
(28)
Middle Aged
(27)
Adolescent
(26)
Muscular Dystrophies - Genetics
(23)
Diseases Of Striated Muscles. Neuromuscular Diseases
(22)
Electrochemistry
(21)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin

The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular Dystrophies

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations

Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E)

Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population

Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype

Analysis of the CTG repeat in skeletal muscle of young and adult myotonic dystrophy patients: when does the expansion occur?

A novel stop codon mutation in the PMP22 gene associated with a variable phenotype

Deficiency of merosin (laminin M or alpha 2) in congenital muscular dystrophy associated with cerebral white matter alterations

Is the maintainance of the C-terminus domain of dystrophin enough to ensure a milder Becker muscular dystrophy phenotype?

Partial α‐sarcoglycan deficiency with retention of the dystrophin‐glycoprotein complex in a LGMD2D family

Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy: a Brazilian study

Is dystrophin always altered in Becker muscular dystrophy patients?

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy

A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriers

assessment of t 50-kDa dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy

Immunofluorescence dystrophy study in Duchenne dystrophy through the concomitant use of two antibodies directed against the carboxy-terminal and the amino-terminal regiona of the protein

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females

Genetic counseling for childless women at risk for Duchenne muscular dystrophy

Rivaroxaban in Patients with Atrial Fibrillation and a Bioprosthetic Mitral Valve

A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G)

Single-chip microprocessor that communicates directly using light

Appropriateness of statin prescription in the elderly

Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy

Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies

Suchergebnisse filtern