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...

Aberrant breast tissue in complete androgen insensitivity syndrome

Clinical and experimental dermatology, 2018-06, Vol.43 (4), p.491-493

2018

Volltextzugriff (PDF)

WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI)

Clinical genetics, 2018-03, Vol.93 (3), p.693-698

2018

Volltextzugriff (PDF)

Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa

Osteoporosis international, 2017-04, Vol.28 (4), p.1385-1392

2017

Volltextzugriff (PDF)

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

Journal of the European Academy of Dermatology and Venereology, 2015-05, Vol.29 (5), p.1032-1034

2015

Volltextzugriff (PDF)

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Genetics in medicine, 2021-08, Vol.23 (8), p.1506-1513

2021

Volltextzugriff (PDF)

Association of glycerol and paraffin in the treatment of ichthyosis in children: an international, multicentric, randomized, controlled, double-blind study

Journal of the European Academy of Dermatology and Venereology, 2012-08, Vol.26 (8), p.1014-1019

2012

Volltextzugriff (PDF)

Anemic nevus in neurofibromatosis type 1

Dermatology (Basel), 2013-01, Vol.226 (2), p.115-118

2013

Volltextzugriff (PDF)

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

British journal of dermatology (1951), 2010-06, Vol.162 (6), p.1365-1369

2010

Volltextzugriff (PDF)

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia

Clinical genetics, 2015-04, Vol.87 (4), p.338-342

2015

Volltextzugriff (PDF)

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

Journal of the European Academy of Dermatology and Venereology, 2016-02, Vol.30 (2), p.341-343

2016

Volltextzugriff (PDF)

Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2

Clinical and experimental dermatology, 2016-08, Vol.41 (6), p.632-635

2016

Volltextzugriff (PDF)

Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization

Clinical genetics, 2006-10, Vol.70 (4), p.339-347

2006

Volltextzugriff (PDF)

Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype

Clinical genetics, 2008-03, Vol.73 (3), p.290-293

2008

Volltextzugriff (PDF)

Allgrove syndrome: a report of a unique case characterised by peculiar dental findings resembling those of ectodermal dysplasia

European journal of paediatric dentistry, 2015-12, Vol.16 (4), p.324-326

2015

Volltextzugriff (PDF)

Oral manifestations in a boy with X-linked reticulate pigmentary disorder

Head & face medicine, 2012-05, Vol.8 (S1), p.P9-P9, Article P9

2012

Volltextzugriff (PDF)

Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis

British journal of dermatology (1951), 2007-10, Vol.157 (4), p.808-810

2007

Volltextzugriff (PDF)

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

Orphanet journal of rare diseases, 2014-05, Vol.9 (1), p.76-76

2014

Volltextzugriff (PDF)

De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma

Clinical genetics, 2008-01, Vol.73 (1), p.85-88

2008

Volltextzugriff (PDF)

Intracellular degradation of β4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia

British journal of dermatology (1951), 2004-10, Vol.151 (4), p.796-802

2004

Volltextzugriff (PDF)

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

Human molecular genetics, 2006-03, Vol.15 (5), p.767-776

2006

Volltextzugriff (PDF)

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

Journal of dermatological science, 2009-03, Vol.53 (3), p.222-225

2009

Volltextzugriff (PDF)

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

American journal of human genetics, 2005-05, Vol.76 (5), p.794-803

2005

Volltextzugriff (PDF)

Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14

Journal of medical genetics, 2003-11, Vol.40 (11), p.849-853

2003

Volltextzugriff (PDF)

582 A study of non-melanoma skin cancer in a series of well-characterized patients with Kindler Syndrome (KS)

Journal of investigative dermatology, 2017-10, Vol.137 (10), p.S292-S292

2017

Volltextzugriff (PDF)

Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia

British journal of dermatology (1951), 2004-10, Vol.151 (4), p.796-802

2004

Volltextzugriff (PDF)

1 – 25 von 234

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(180)
Mit Volltextzugriff
(171)

Publikationsform

Sprache

1 weiteren anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Aberrant breast tissue in complete androgen insensitivity syndrome

WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI)

Birmingham epidermolysis severity score and vitamin D status are associated with low BMD in children with epidermolysis bullosa

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Association of glycerol and paraffin in the treatment of ichthyosis in children: an international, multicentric, randomized, controlled, double-blind study

Anemic nevus in neurofibromatosis type 1

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2

Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization

Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype

Allgrove syndrome: a report of a unique case characterised by peculiar dental findings resembling those of ectodermal dysplasia

Oral manifestations in a boy with X-linked reticulate pigmentary disorder

Transglutaminase 1 deficiency and corneocyte collapse: an indication for targeted molecular screening in autosomal recessive congenital ichthyosis

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma

Intracellular degradation of β4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3

The novel p.G150R missense mutation in the cartilage matrix protein subdomain of type VII collagen in compound heterozigosity with the c.682 + 1G > A COL7A1 splicing mutation leads to mild dystrophic epidermolysis bullosa

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14

582 A study of non-melanoma skin cancer in a series of well-characterized patients with Kindler Syndrome (KS)

Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia

Suchergebnisse filtern