UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 73

Sortiert nach

Management of symptomatic mucosal involvement in paediatric pachyonychia congenita

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.536-537

2020

Volltextzugriff (PDF)

Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation

British journal of dermatology (1951), 2019-09, Vol.181 (3), p.584-586

2019

Volltextzugriff (PDF)

LB977 Whole-transcriptome Sequencing Determines Host Genetic and Microbial Determinants of Skin Lesions in Patients with Persistent Cutaneous Infections

Journal of investigative dermatology, 2024-08, Vol.144 (8), p.S172-S172

2024

Volltextzugriff (PDF)

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

British journal of dermatology (1951), 2017-08, Vol.177 (2), p.342-343

2017

Volltextzugriff (PDF)

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.729-737

2020

Volltextzugriff (PDF)

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa‐like phenotype

British journal of dermatology (1951), 2021-06, Vol.184 (6), p.1170-1174

2021

Volltextzugriff (PDF)

Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects

British journal of dermatology (1951), 2018-03, Vol.178 (3), p.e219-e221

2018

Volltextzugriff (PDF)

Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP

Journal of the European Academy of Dermatology and Venereology, 2022-03, Vol.36 (3), p.472-479

2022

Volltextzugriff (PDF)

Novel splice mutation in CDSN gene causing type b peeling skin syndrome

Journal of the European Academy of Dermatology and Venereology, 2022-06, Vol.36 (6), p.e456-e460

2022

Volltextzugriff (PDF)

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

British journal of dermatology (1951), 2017-07, Vol.177 (1), p.319-322

2017

Volltextzugriff (PDF)

Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum

British journal of dermatology (1951), 2016-10, Vol.175 (4), p.810-814

2016

Volltextzugriff (PDF)

一项关于基因突变及其与不同鱼鳞病类型相关性的研究

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.e114-e114

2020

Volltextzugriff (PDF)

A study of gene mutations and how they relate to the different types of ichthyosis

British journal of dermatology (1951), 2020-03, Vol.182 (3), p.e101-e101

2020

Volltextzugriff (PDF)

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico

Clinical and experimental dermatology, 2018-07, Vol.43 (5), p.579-584

2018

Volltextzugriff (PDF)

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene

Clinical and experimental dermatology, 2015-08, Vol.40 (6), p.636-639

2015

Volltextzugriff (PDF)

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru

Clinical and experimental dermatology, 2018-08, Vol.43 (6), p.719-722

2018

Volltextzugriff (PDF)

307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis

Journal of investigative dermatology, 2022-12, Vol.142 (12), p.S233-S233

2022

Volltextzugriff (PDF)

258 Prevalence of autosomal recessive genodermatoses: Determination based on pathogenic sequence variants in publicly available exomic and genomic databases

Journal of investigative dermatology, 2022-08, Vol.142 (8), p.S44

2022

Volltextzugriff (PDF)

Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis

Acta dermato-venereologica, 2020-03, Vol.100 (7), p.adv00095-185

2020

Volltextzugriff (PDF)

876 Loss-of-function EGFR mutation in bartter syndrome with neonatal epithelial autoinflammation

Journal of investigative dermatology, 2023-05, Vol.143 (5), p.S150-S150

2023

Volltextzugriff (PDF)

044 Metatranscriptomics reveals association of α-, β-, and γ-HPVs with typical epidermodysplasia verruciformis in a large cohort of patients with CIB1, TMC6, or TMC8 mutations

Journal of investigative dermatology, 2022-12, Vol.142 (12), p.S188-S188

2022

Volltextzugriff (PDF)

495 Mutations in different domains of bullous pemphigoid antigen-1 (BPGA1) encoded by DST result in either epidermolysis bullosa simplex or musculoskeletal and neuronal deformities-associated HSAN-VI

Journal of investigative dermatology, 2022-08, Vol.142 (8), p.S84

2022

Volltextzugriff (PDF)

309 Losartan treatment improves recessive dystrophic Epidermolysis bullosa

Journal of investigative dermatology, 2022-08, Vol.142 (8), p.S53

2022

Volltextzugriff (PDF)

494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation

Journal of investigative dermatology, 2022-08, Vol.142 (8), p.S84

2022

Volltextzugriff (PDF)

301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa

Journal of investigative dermatology, 2022-12, Vol.142 (12), p.S232-S232

2022

Volltextzugriff (PDF)

1 – 25 von 73

Suche als RSS-Feed

Aktive Filter

KollektionTaylor & Francis

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(72)
Mit Volltextzugriff
(71)

Publikationsform

Artikel
(72)
Berichte
(1)

Sprache

Englisch
(71)
Französisch
(2)

Erscheinungsjahr

n.n

Thema

Humans
(19)
Life Sciences & Biomedicine
(19)
Science & Technology
(19)
Dermatology
(15)
Mutation
(13)
Male
(9)
Female
(8)
Ichthyosis
(6)
Child
(5)
Ichthyosis - Genetics
(5)
Adult
(4)
Infant
(4)
Phenotype
(4)
Adolescent
(3)
Collagen Type Vii - Genetics
(3)
Dystrophic Epidermolysis Bullosa
(3)
Epidermolysis Bullosa
(3)
Epidermolysis Bullosa Dystrophica - Genetics
(3)
Genes
(3)
Genes, Recessive
(3)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Management of symptomatic mucosal involvement in paediatric pachyonychia congenita

Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation

LB977 Whole-transcriptome Sequencing Determines Host Genetic and Microbial Determinants of Skin Lesions in Patients with Persistent Cutaneous Infections

Expanding mutation landscape and phenotypic spectrum of autosomal recessive congenital ichthyosis

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

GGCX mutations in a patient with overlapping pseudoxanthoma elasticum/cutis laxa‐like phenotype

Erythrokeratoderma: a manifestation associated with multiple types of ichthyoses with different gene defects

Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP

Novel splice mutation in CDSN gene causing type b peeling skin syndrome

Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation

Phenotypic heterogeneity in PIK3CA-related overgrowth spectrum

一项关于基因突变及其与不同鱼鳞病类型相关性的研究

A study of gene mutations and how they relate to the different types of ichthyosis

Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene

First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru

307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis

258 Prevalence of autosomal recessive genodermatoses: Determination based on pathogenic sequence variants in publicly available exomic and genomic databases

Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis

876 Loss-of-function EGFR mutation in bartter syndrome with neonatal epithelial autoinflammation

044 Metatranscriptomics reveals association of α-, β-, and γ-HPVs with typical epidermodysplasia verruciformis in a large cohort of patients with CIB1, TMC6, or TMC8 mutations

495 Mutations in different domains of bullous pemphigoid antigen-1 (BPGA1) encoded by DST result in either epidermolysis bullosa simplex or musculoskeletal and neuronal deformities-associated HSAN-VI

309 Losartan treatment improves recessive dystrophic Epidermolysis bullosa

494 Epidermolysis bullosa pruriginosa, muscular dystrophy, and immune-mediated myasthenia gravis in a patient with homozygous nonsense PLEC mutation

301 The Spectrum of PLEC Sequence Variants and Related Plectinopathies Including Novel Association with Epidermolysis Bullosa Pruriginosa

Aktive Filter

Suchergebnisse filtern