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...

IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation

Journal of allergy and clinical immunology, 2016-04, Vol.137 (4), p.1189-1196.e2

2016

Volltextzugriff (PDF)

Atopic dermatitis-like disease and associated lethal myeloproliferative disorder arise from loss of Notch signaling in the murine skin

PloS one, 2010-02, Vol.5 (2), p.e9258-e9258

2010

Volltextzugriff (PDF)

Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis

PloS one, 2016-08, Vol.11 (8), p.e0161465-e0161465

2016

Volltextzugriff (PDF)

Spontaneous atopic dermatitis-like symptoms in a/a ma ft/ma ft/J flaky tail mice appear early after birth

PloS one, 2013-07, Vol.8 (7), p.e67869-e67869

2013

Volltextzugriff (PDF)

A case of livedoid vasculopathy, a thrombotic occlusive vasculopathy

JEADV clinical practice, 2022-03, Vol.1 (1), p.45-48

2022

Volltextzugriff (PDF)

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Nature genetics, 1998-12, Vol.20 (4), p.366-369

1998

Volltextzugriff (PDF)

Palmoplantar Keratoderma with Leukokeratosis Anogenitalis Caused by KDSR Mutations

Journal of investigative dermatology, 2020-08, Vol.140 (8), p.1662-1665.e1

2020

Volltextzugriff (PDF)

Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis

Science (American Association for the Advancement of Science), 1995-01, Vol.267 (5197), p.525-528

1995

Volltextzugriff (PDF)

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

Journal of molecular medicine (Berlin, Germany), 2000-01, Vol.78 (5), p.282-286

2000

Volltextzugriff (PDF)

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Nature Medicine, 2017-10, Vol.23 (10), p.1226-1233

2017

Volltextzugriff (PDF)

Cutaneous presentation of enteropathy-associated T-cell lymphoma masquerading as a DUSP22-rearranged CD30+ lymphoproliferation

Virchows Archiv : an international journal of pathology, 2022-10, Vol.481 (4), p.653-657

2022

Volltextzugriff (PDF)

Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita

Journal of investigative dermatology, 2001-12, Vol.117 (6), p.1391-1396

2001

Volltextzugriff (PDF)

Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda

Human molecular genetics, 2003-11, Vol.12 (22), p.3017-3024

2003

Volltextzugriff (PDF)

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene : implications for mutation analysis in pseudoxanthoma elasticum

Journal of molecular medicine (Berlin, Germany), 2001-09, Vol.79 (9), p.536-546

2001

Volltextzugriff (PDF)

Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases

The American journal of dermatopathology, 2013-04, Vol.35 (2), p.241-245

2013

Volltextzugriff (PDF)

SLURP1 Is a Late Marker of Epidermal Differentiation and Is Absent in Mal de Meleda

Journal of investigative dermatology, 2007-02, Vol.127 (2), p.301-308

2007

Volltextzugriff (PDF)

Mutations in the gene encoding SLURP-1 in Mal de Meleda

Human molecular genetics, 2001-04, Vol.10 (8), p.875-880

2001

Volltextzugriff (PDF)

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6

Human mutation, 2005-09, Vol.26 (3), p.235-248

2005

Volltextzugriff (PDF)

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis

Human molecular genetics, 2003-12, Vol.12 (24), p.3287-3294

2003

Volltextzugriff (PDF)

Novel mutation of connexin 31 causing erythrokeratoderma variabilis

British journal of dermatology (1951), 2005-05, Vol.152 (5), p.1072-1074

2005

Volltextzugriff (PDF)

Deletion of the Cytoplasmatic Domain of BP180/Collagen XVII Causes a Phenotype with Predominant Features of Epidermolysis Bullosa Simplex

Journal of investigative dermatology, 2002-01, Vol.118 (1), p.185-192

2002

Volltextzugriff (PDF)

Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex

Journal of investigative dermatology, 1997-02, Vol.108 (2), p.220-223

1997

Volltextzugriff (PDF)

Lamellar Ichthyosis Is Genetically Heterogeneous–Cases with Normal Keratinocyte Transglutaminase

Journal of investigative dermatology, 1995-11, Vol.105 (5), p.653-654

1995

Volltextzugriff (PDF)

1 – 25 von 30

Suche als RSS-Feed

Aktive Filter

ThemaMutation

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(30)
Mit Volltextzugriff
(28)

Publikationsform

Artikel
(30)

Sprache

Englisch
(30)

Erscheinungsjahr

n.n

Thema

Science & Technology
(28)
Humans
(27)
Life Sciences & Biomedicine
(24)
Dermatology
(23)
Female
(18)
Male
(16)
Biological And Medical Sciences
(15)
Medical Sciences
(13)
Pedigree
(12)
Genetics & Heredity
(10)
Base Sequence
(9)
Molecular Sequence Data
(9)
Amino Acid Sequence
(7)
Keratoderma, Palmoplantar - Genetics
(7)
Dyskeratosis
(6)
Genetic Aspects
(6)
Phenotype
(6)
Animals
(5)
Gene Expression
(5)

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation

Atopic dermatitis-like disease and associated lethal myeloproliferative disorder arise from loss of Notch signaling in the murine skin

Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis

Spontaneous atopic dermatitis-like symptoms in a/a ma ft/ma ft/J flaky tail mice appear early after birth

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

A case of livedoid vasculopathy, a thrombotic occlusive vasculopathy

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

Palmoplantar Keratoderma with Leukokeratosis Anogenitalis Caused by KDSR Mutations

Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis

Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum

Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas

Cutaneous presentation of enteropathy-associated T-cell lymphoma masquerading as a DUSP22-rearranged CD30+ lymphoproliferation

Novel and Recurrent Mutations in the Genes Encoding Keratins K6a, K16 and K17 in 13 Cases of Pachyonychia Congenita

Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda

A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene : implications for mutation analysis in pseudoxanthoma elasticum

Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases

Identification of the familial cylindromatosis tumour-suppressor gene

SLURP1 Is a Late Marker of Epidermal Differentiation and Is Absent in Mal de Meleda

Mutations in the gene encoding SLURP-1 in Mal de Meleda

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis

Novel mutation of connexin 31 causing erythrokeratoderma variabilis

Deletion of the Cytoplasmatic Domain of BP180/Collagen XVII Causes a Phenotype with Predominant Features of Epidermolysis Bullosa Simplex

Missense Mutations in Keratin 17 Cause Either Pachyonychia Congenita Type 2 or a Phenotype Resembling Steatocystoma Multiplex

Lamellar Ichthyosis Is Genetically Heterogeneous–Cases with Normal Keratinocyte Transglutaminase

Aktive Filter

Suchergebnisse filtern