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 AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

American journal of human genetics, 2013-08, Vol.93 (2), p.330-335

2013

Volltextzugriff (PDF)

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Nature genetics, 2006-03, Vol.38 (3), p.337-342

2006

Volltextzugriff (PDF)

Clinical and Pathological Features of Pachyonychia Congenita

The Journal of investigative dermatology symposium proceedings, 2005-10, Vol.10 (1), p.3-17

2005

Volltextzugriff (PDF)

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

Journal of dermatology, 2013-04, Vol.40 (4), p.259-266

2013

Volltextzugriff (PDF)

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation

Journal of cell science, 2001-06, Vol.114 (Pt 11), p.2105-2113

2001

Volltextzugriff (PDF)

The Genetic Basis of Pachyonychia Congenita

The Journal of investigative dermatology symposium proceedings, 2005-10, Vol.10 (1), p.21-30

2005

Volltextzugriff (PDF)

Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene

Journal of investigative dermatology, 2002-02, Vol.118 (2), p.338-343

2002

Volltextzugriff (PDF)

Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels

Journal of investigative dermatology, 2004-07, Vol.123 (1), p.67-71

2004

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)

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Nature genetics, 1999-03, Vol.21 (3), p.271-277

1999

Volltextzugriff (PDF)

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin

Journal of investigative dermatology, 2006-07, Vol.126 (7), p.1651-1654

2006

Volltextzugriff (PDF)

A Missense Mutation in Connexin26, D66H, Causes Mutilating Keratoderma with Sensorineural Deafness (Vohwinkel's Syndrome) in Three Unrelated Families

Human molecular genetics, 1999-07, Vol.8 (7), p.1237-1243

1999

Volltextzugriff (PDF)

Molecular genetics of the skin: the implications of understanding

Clinical medicine (London, England), 2009-12, Vol.9 (6), p.591-592

Munro, Colin S

2009

Volltextzugriff (PDF)

Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin

Journal of investigative dermatology, 2012-05, Vol.132 (5), p.1507-1510

2012

Volltextzugriff (PDF)

Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris

Journal of investigative dermatology, 2011-06, Vol.131 (6), p.1378-1380

2011

Volltextzugriff (PDF)

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class

Human molecular genetics, 1999-09, Vol.8 (9), p.1621-1630

1999

Volltextzugriff (PDF)

Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1

Journal of dermatological science, 2013-02, Vol.69 (2), p.e53-e53

2013

Volltextzugriff (PDF)

Epidermal mosaicism producing localised acne: somatic mutation in FGFR2

The Lancet (British edition), 1998-08, Vol.352 (9129), p.704-705

1998

Volltextzugriff (PDF)

Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly

Journal of investigative dermatology, 2009-04, Vol.129 (4), p.1042-1045

2009

Volltextzugriff (PDF)

Two families with Greither's syndrome caused by a keratin 1 mutation

Journal of the American Academy of Dermatology, 2005-11, Vol.53 (5), p.S225-S230

2005

Volltextzugriff (PDF)

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

European journal of human genetics : EJHG, 2000-02, Vol.8 (2), p.141-144

2000

Volltextzugriff (PDF)

Mutant Loricrin is Not Crosslinked into the Cornified Cell Envelope but is Translocated into the Nucleus in Loricrin Keratoderma

Journal of investigative dermatology, 2000-12, Vol.115 (6), p.1088-1094

2000

Volltextzugriff (PDF)

Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

Journal of investigative dermatology, 1999-10, Vol.113 (4), p.607-612

1999

Volltextzugriff (PDF)

The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing

American journal of human genetics, 1999-08, Vol.65 (2), p.413-419

1999

Volltextzugriff (PDF)

1 – 25 von 298

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(261)
Mit Volltextzugriff
(241)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Englisch
(298)
Japanisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

Clinical and Pathological Features of Pachyonychia Congenita

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation

The Genetic Basis of Pachyonychia Congenita

Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene

Hailey–Hailey Disease: Identification of Novel Mutations in ATP2C1 and Effect of Missense Mutation A528P on Protein Expression Levels

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

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Early Death from Cardiomyopathy in a Family with Autosomal Dominant Striate Palmoplantar Keratoderma and Woolly Hair Associated with a Novel Insertion Mutation in Desmoplakin

A Missense Mutation in Connexin26, D66H, Causes Mutilating Keratoderma with Sensorineural Deafness (Vohwinkel's Syndrome) in Three Unrelated Families

Molecular genetics of the skin: the implications of understanding

Mutations in the SASPase Gene (ASPRV1) Are Not Associated with Atopic Eczema or Clinically Dry Skin

Filaggrin Null Mutations Are Not a Protective Factor for Acne Vulgaris

ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class

Mutations in the AAGAB gene, encoding alpha- and gamma-adaptin binding protein p34, cause punctate palmoplantar keratoderma type 1

Epidermal mosaicism producing localised acne: somatic mutation in FGFR2

Heterozygous Null Alleles in Filaggrin Contribute to Clinical Dry Skin in Young Adults and the Elderly

Two families with Greither's syndrome caused by a keratin 1 mutation

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

Mutant Loricrin is Not Crosslinked into the Cornified Cell Envelope but is Translocated into the Nucleus in Loricrin Keratoderma

Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype

The Gene for Hypotrichosis of Marie Unna Maps between D8S258 and D8S298: Exclusion of the hr Gene by cDNA and Genomic Sequencing

Suchergebnisse filtern