Disease: Epidermolysis bullosa simplex- Koebner type
- "Quality of Life in Epidermolysis Bullosa" and "Epidermolysis Bullosa Burden of Disease": Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires
- A case of epidermolysis bullosa simplex-Ogna with nail involvement
- A case of the novel mutation p.L311P in KRT5 causing localized epidermolysis bullosa simplex in East Asian population
- A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex
- A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex
- A neutral comparison of statistical methods for analyzing longitudinally measured ordinal outcomes in rare diseases
- A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex
- A Retrospective Study on the Clinical, Laboratory, and Nutritional Status of Pediatric Epidermolysis Bullosa in a Tertiary Referral Hospital in West Java, Indonesia
- A single-centre study on predictors and determinants of pubertal delay and growth impairment in Epidermolysis Bullosa
- A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation
- Advanced gene-editing strategy for epidermolysis bullosa simplex
- Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa
- Allele specific CRISPR/Cas9 editing of dominant Epidermolysis Bullosa Simplex in human epidermal stem cells
- Allele-specific CRISPR-Cas9 editing of dominant epidermolysis bullosa simplex in human epidermal stem cells
- Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9
- Analysis of KRT5 and KRT14 gene mutations and mode of inheritance in Iranian patients with clinical suspicion of Epidermolysis bullosa simplex
- Are existing validated severity scores for epidermolysis bullosa reflective of the burden of disease in patients with epidermolysis bullosa simplex?
- Attenuated Replication-Competent Herpes Simplex Virus Expressing an ECM-Modifying Transgene Hyaluronan Synthase 2 of Naked Mole Rat in Oncolytic Gene Therapy
- Beremagene Geperpavec: First Approval
- Biology of Pellino1: a potential therapeutic target for inflammation in diseases and cancers
- Bullous pemphigoid antigens (BPAGs): identification of RFLPs in human BPAG1 and BPAG2, and exclusion as candidate genes in a large kindred with dominant epidermolysis bullosa simplex
- Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review
- Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
- Dapsone for the management of severe epidermolysis bullosa simplex: A case report and evidence for a repurposing trial
- Deacetylation via SIRT2 prevents keratin-mutation-associated injury and keratin aggregation
- Descriptive Study of the Clinical and Molecular Features of Epidermolysis Bullosa Patients in a Romanian European Reference Network-Skin Affiliated Reference Center
- Diacerein 1% Ointment for the Treatment of Epidermolysis Bullosa Simplex: A Randomized, Controlled Trial
- Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum
- EBS in Children with De Novo Pathogenic Variants Disturbing <em>Krt14</em>
- Efficacy and safety of Oleogel-S10 (birch triterpenes) for epidermolysis bullosa: results from the phase III randomized double-blind phase of the EASE study
- Epidemiological Characteristics of Inherited Epidermolysis Bullosa in an Eastern European Population
- Epidemiology of inherited epidermolysis bullosa in Germany
- Epidermolysis Bullosa
- Epidermolysis bullosa in a mother-infant dyad
- Epidermolysis bullosa in oral health: clinical manifestations and salivary alterations
- Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene
- Epidermolysis Bullosa Simplex With Dystonin Gene Mutation: First Reported Case in Saudi Arabia
- Epidermolysis bullosa simplex: genotype-phenotype correlation in Danish patients
- Epidermolysis Bullosa-A Kindler Syndrome Case Report and Short Literature Review
- Epidermolysis Bullosa: Practical Clinical Tips From the Field
- Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature
- Esophageal Manifestations of Dermatological Diseases, Diagnosis and Management
- Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India
- Exon 8 deletion of KRT5 in epidermolysis bullosa simplex with mottled pigmentation: A case report
- Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies
- Exploring the Impact of Epidermolysis Bullosa on Parents and Caregivers: A Cross-Cultural Validation of the Epidermolysis Bullosa Burden of Disease Questionnaire
- Eye Involvement and Management in Inherited Epidermolysis Bullosa
- Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex
- Gastrostomy tube feeding in epidermolysis bullosa: A multi-center assessment of caregiver satisfaction
- Generalized dominant epidermolysis bullosa simplex: decreased activity of a gelatinolytic protease in cultured fibroblasts as a phenotypic marker
- Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermylosis bullosa registry and review of the literature
- Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
- Gross motor development in children with epidermolysis bullosa
- Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in Sao Paulo, Brazil
- Herpes simplex virus gene therapy for dystrophic epidermolysis bullosa (DEB)
- How to analyze continuous and discrete repeated measures in small-sample cross-over trials?
- Human nidogen gene: identification of multiple RFLP and exclusion as candidate gene in a family with epidermolysis bullosa (EBS2) with evidence for linkage to chromosome 1
- Identification of a novel homozygous <em>LAMB3</em> mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Identification of novel KRT5 gene variants in two Chinese patients with sporadic form of epidermolysis bullosa simplex: A case report
- IgA nephropathy in adults with epidermolysis bullosa
- Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy
- KRT5 in-frame deletion in a family of German Shepherd dogs with split paw pad disease resembling localized epidermolysis bullosa simplex in human patients
- KRT5 missense variant in a Cardigan Welsh Corgi with epidermolysis bullosa simplex
- Large intragenic deletion of KRT14 causes autosomal-dominant epidermolysis bullosa simplex with generalized hyperpigmentation
- Localized epidermolysis bullosa simplex caused by a previously unreported substitution in the linker 12 domain of keratin 14
- Low-dose botulinum toxin improves disease activity and quality of life in epidermolysis bullosa simplex
- Measuring the impact of pruritus in patients with epidermolysis bullosa: evaluation with an itch-specific instrument
- Molecular genetic basis of epidermolysis bullosa
- Mutation update: The spectra of PLEC sequence variants and related plectinopathies
- Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients
- Nail involvement in patients with epidermolysis bullosa: A systematic review
- Natal teeth, hypoplasia of the first toe, and growth retardation in a patient with severe epidermolysis bullosa simplex
- Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia
- Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa
- Oral health status in patients with inherited epidermolysis bullosa: a comparative multicenter study
- Oral prosthetic rehabilitation in patients with Epidermolysis Bullosa Hereditaria: a systematic review
- Painting and dissecting Epidermolysis Bullosa Simplex-associated keratin aggregates
- Perioperative Management of Congenital Epidermolysis Bullosa
- Phenotype and genotype correlation of inherited epidermolysis bullosa in Indonesia
- Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion
- Posttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases
- Potential di-genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex
- Practical considerations relevant to treatment with the gene therapy beremagene geperpavec-svdt for dystrophic epidermolysis bullosa
- Practical Tips on Epidermolysis Bullosa for Caregivers: Part 2
- Revolutionary breakthrough: FDA approves Vyjuvek, the first topical gene therapy for dystrophic epidermolysis bullosa
- Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues
- Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5
- Small fiber neuropathy in epidermolysis bullosa simplex
- Statistical recommendations for count, binary, and ordinal data in rare disease cross-over trials
- Stem Cell Therapies for Epidermolysis Bullosa Treatment
- Temporal Changes in the Skin Microbiome of Epidermolysis Bullosa Patients following the Application of Wound Dressings
- The genetic basis of Weber-Cockayne epidermolysis bullosa simplex
- Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland
- Treatment of epidermolysis bullosa simplex with dupilumab
- Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa
- Ultrastructural findings in epidermolysis bullosa
- Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis
- Very late antigen (VLA) expression in various forms of epidermolysis bullosa simplex
- Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa