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...

Mutations in EXPH5 result in autosomal recessive inherited skin fragility

British journal of dermatology (1951), 2014-01, Vol.170 (1), p.196-199

2014

Volltextzugriff (PDF)

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

Nature genetics, 1997-10, Vol.17 (2), p.240-244

1997

Volltextzugriff (PDF)

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

British journal of dermatology (1951), 2015-01, Vol.172 (1), p.94-100

2015

Volltextzugriff (PDF)

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

Muscle & nerve, 2007-01, Vol.35 (1), p.24-35

2007

Volltextzugriff (PDF)

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Nature genetics, 1996-08, Vol.13 (4), p.450-457

1996

Volltextzugriff (PDF)

Beta defensin-3 engineered epidermis shows highly protective effect for bacterial infection

Gene therapy, 2005-05, Vol.12 (10), p.857-861

2005

Volltextzugriff (PDF)

Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

British journal of dermatology (1951), 2008-04, Vol.158 (4), p.864-867

2008

Volltextzugriff (PDF)

Founder mutation in dystonin‐e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

British journal of dermatology (1951), 2015-02, Vol.172 (2), p.527-531

2015

Volltextzugriff (PDF)

Whole‐exome sequencing diagnosis of two autosomal recessive disorders in one family

British journal of dermatology (1951), 2015-05, Vol.172 (5), p.1407-1411

2015

Volltextzugriff (PDF)

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

British journal of dermatology (1951), 2015-11, Vol.173 (5), p.1291-1294

2015

Volltextzugriff (PDF)

Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition

The American journal of pathology, 1996-06, Vol.148 (6), p.1787-1796

1996

Volltextzugriff (PDF)

Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress

British journal of dermatology (1951), 1998-11, Vol.139 (5), p.767-775

1998

Volltextzugriff (PDF)

Gap junction development in the human fetal hair follicle and bulge region

British journal of dermatology (1951), 2004-03, Vol.150 (3), p.429-434

2004

Volltextzugriff (PDF)

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

British journal of dermatology (1951), 1999-02, Vol.140 (2), p.297-307

1999

Volltextzugriff (PDF)

Dangerousness, mental disorder, and responsibility

Journal of medical ethics, 2003-08, Vol.29 (4), p.232-235

McMillan, J R

2003

Volltextzugriff (PDF)

NICE, the draft fertility guideline and dodging the big question

Journal of medical ethics, 2003-12, Vol.29 (6), p.313-314

McMillan, J R

2003

Volltextzugriff (PDF)

Hemidesmosomes Show Abnormal Association with the Keratin Filament Network in Junctional Forms of Epidermolysis Bullosa

Journal of investigative dermatology, 1998-02, Vol.110 (2), p.132-137

1998

Volltextzugriff (PDF)

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

Nature genetics, 1995-09, Vol.11 (1), p.83-86

1995

Volltextzugriff (PDF)

The ethics of research related to health care in developing countries

Journal of medical ethics, 2004-04, Vol.30 (2), p.204-206

2004

Volltextzugriff (PDF)

Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens

British journal of dermatology (1951), 2008-01, Vol.158 (1), p.191-194

2008

Volltextzugriff (PDF)

Acquired junctional epidermolysis bullosa associated with IgG autoantibodies to the β subunit of laminin-5

British journal of dermatology (1951), 1998-01, Vol.138 (1), p.125-130

1998

Volltextzugriff (PDF)

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis

British journal of dermatology (1951), 2006-11, Vol.155 (5), p.1064-1066

2006

Volltextzugriff (PDF)

Bullous Pemphigoid and Cicatricial Pemphigoid Autoantibodies React with Ultrastructurally Separable Epitopes on the BP180 Ectodomain: Evidence that BP180 Spans the Lamina Lucida

Journal of investigative dermatology, 1997-06, Vol.108 (6), p.901-907

1997

Volltextzugriff (PDF)

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

Genes & development, 1996-07, Vol.10 (14), p.1724-1735

1996

Volltextzugriff (PDF)

Moderation of Phenotypic Severity in Dystrophic and Junctional Forms of Epidermolysis Bullosa Through In-Frame Skipping of Exons Containing Non-Sense or Frameshift Mutations

Journal of investigative dermatology, 1999-09, Vol.113 (3), p.314-321

1999

Volltextzugriff (PDF)

1 – 25 von 820

Suche als RSS-Feed

Aktive Filter

ThemaHumans

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(779)
Mit Volltextzugriff
(588)

Publikationsform

Sprache

Englisch
(820)

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Mutations in EXPH5 result in autosomal recessive inherited skin fragility

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

Plectin defects in epidermolysis bullosa simplex with muscular dystrophy

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

Beta defensin-3 engineered epidermis shows highly protective effect for bacterial infection

Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma

Founder mutation in dystonin‐e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

Whole‐exome sequencing diagnosis of two autosomal recessive disorders in one family

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition

Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress

Gap junction development in the human fetal hair follicle and bulge region

Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

Dangerousness, mental disorder, and responsibility

NICE, the draft fertility guideline and dodging the big question

Hemidesmosomes Show Abnormal Association with the Keratin Filament Network in Junctional Forms of Epidermolysis Bullosa

Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

The ethics of research related to health care in developing countries

Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens

Acquired junctional epidermolysis bullosa associated with IgG autoantibodies to the β subunit of laminin-5

A novel ABCA12 mutation 3270delT causes harlequin ichthyosis

Bullous Pemphigoid and Cicatricial Pemphigoid Autoantibodies React with Ultrastructurally Separable Epitopes on the BP180 Ectodomain: Evidence that BP180 Spans the Lamina Lucida

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

Moderation of Phenotypic Severity in Dystrophic and Junctional Forms of Epidermolysis Bullosa Through In-Frame Skipping of Exons Containing Non-Sense or Frameshift Mutations

Aktive Filter

Suchergebnisse filtern