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...

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

American journal of human genetics, 2012-07, Vol.91 (1), p.163-170

2012

Volltextzugriff (PDF)

A Novel Point-of-Care Rapid Diagnostic Test for Screening Individuals for Antibody Deficiencies

Journal of clinical immunology, 2022-02, Vol.42 (2), p.394-403

2022

Volltextzugriff (PDF)

Inflammatory Peeling Skin Syndrome Caused by a Mutation in CDSN Encoding Corneodesmosin

Journal of investigative dermatology, 2011-03, Vol.131 (3), p.779-781

2011

Volltextzugriff (PDF)

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

American journal of human genetics, 2011-04, Vol.88 (4), p.482-487

2011

Volltextzugriff (PDF)

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

Experimental dermatology, 2021-09, Vol.30 (9), p.1290-1297

2021

Volltextzugriff (PDF)

Population-Specific Association between a Polymorphic Variant in ST18, Encoding a Pro-Apoptotic Molecule, and Pemphigus Vulgaris

Journal of investigative dermatology, 2012-07, Vol.132 (7), p.1798-1805

2012

Volltextzugriff (PDF)

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

American journal of human genetics, 2012-08, Vol.91 (2), p.337-342

2012

Volltextzugriff (PDF)

The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12

Experimental dermatology, 2013-04, Vol.22 (4), p.251-254

2013

Volltextzugriff (PDF)

Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa

Pediatric dermatology, 2023-11, Vol.40 (6), p.1021-1027

2023

Volltextzugriff (PDF)

Inflammatory peeling skin syndrome caused a novel mutation in CDSN

Archives of Dermatological Research, 2012-04, Vol.304 (3), p.251-255

2012

Volltextzugriff (PDF)

Semidominant Inheritance in Epidermolytic Ichthyosis

Journal of investigative dermatology, 2013-11, Vol.133 (11), p.2626-2628

2013

Volltextzugriff (PDF)

From biorepositories to data repositories: Open-access resources accelerate early R&D and validation of equitable diagnostic tools

PLOS global public health, 2023-08, Vol.3 (8), p.e0002044-e0002044

2023

Volltextzugriff (PDF)

From biorepositories to data repositories: Open-access resources accelerate early R D and validation of equitable diagnostic tools

PLOS global public health, 2023-01, Vol.3 (8), p.e0002044

2023

Volltextzugriff (PDF)

Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome

Dermatology (Basel), 2014-01, Vol.228 (2), p.183-188

2014

Volltextzugriff (PDF)

A Mutation in TP63 Causing a Mild Ectodermal Dysplasia Phenotype

Journal of investigative dermatology, 2014-08, Vol.134 (8), p.2277-2280

2014

Volltextzugriff (PDF)

Inflammatory Peeling Skin Syndrome Caused by a Mutation in CDSN Encoding Corneodesmosin

Journal of investigative dermatology, 2011-03, Vol.131 (3), p.779

2011

Volltextzugriff (PDF)

The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA 12

Experimental dermatology, 2013-04, Vol.22 (4), p.251-254

2013

Volltextzugriff (PDF)

Semidominant inheritance in epidermolytic ichthyosis

The Journal of investigative dermatology, 2013, Vol.133 (11), p.2626-2628

2013

Volltextzugriff (PDF)

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin

The Journal of investigative dermatology, 2011, Vol.131 (3), p.779-781

2011

Volltextzugriff (PDF)

1 – 19 von 19

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(17)
Mit Volltextzugriff
(18)

Publikationsform

Artikel
(17)
Berichte
(2)

Sprache

Englisch
(19)
Japanisch
(7)

Erscheinungsjahr

n.n

Thema

Dermatology
(12)
Humans
(12)
Life Sciences & Biomedicine
(12)
Science & Technology
(12)
Mutation
(9)
Female
(8)
Male
(7)
Pedigree
(6)
Biological And Medical Sciences
(5)
Medical Sciences
(5)
Base Sequence
(4)
Skin Diseases
(4)
Adolescent
(3)
Adult
(3)
Child, Preschool
(3)
Fundamental And Applied Biological Sciences. Psychology
(3)
Genes
(3)
Genetics & Heredity
(3)
Genetics Of Eukaryotes. Biological And Molecular Evolution
(3)
Homozygote
(3)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

A Novel Point-of-Care Rapid Diagnostic Test for Screening Individuals for Antibody Deficiencies

Inflammatory Peeling Skin Syndrome Caused by a Mutation in CDSN Encoding Corneodesmosin

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

Population-Specific Association between a Polymorphic Variant in ST18, Encoding a Pro-Apoptotic Molecule, and Pemphigus Vulgaris

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation

The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA12

Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa

Inflammatory peeling skin syndrome caused a novel mutation in CDSN

Semidominant Inheritance in Epidermolytic Ichthyosis

From biorepositories to data repositories: Open-access resources accelerate early R&D and validation of equitable diagnostic tools

From biorepositories to data repositories: Open-access resources accelerate early R D and validation of equitable diagnostic tools

Molecular analysis of a series of Israeli families with Comèl-Netherton syndrome

A Mutation in TP63 Causing a Mild Ectodermal Dysplasia Phenotype

Inflammatory Peeling Skin Syndrome Caused by a Mutation in CDSN Encoding Corneodesmosin

The sound of silence: autosomal recessive congenital ichthyosis caused by a synonymous mutation in ABCA 12

Semidominant inheritance in epidermolytic ichthyosis

Inflammatory peeling skin syndrome caused by a mutation in CDSN encoding corneodesmosin

Suchergebnisse filtern