Disease: Epidermolysis bullosa herpetiformis- Dowling-Meara
- "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 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
- 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
- Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies
- Beremagene Geperpavec: First Approval
- Biology of Pellino1: a potential therapeutic target for inflammation in diseases and cancers
- 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
- Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India
- 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
- Detrimental Effects of IFN-gamma on an Epidermolysis Bullosa Simplex Cell Model and Protection by a Humanized Anti-IFN-gamma Monoclonal Antibody
- Detrimental Effects of IFN-γ on an Epidermolysis Bullosa Simplex Cell Model and Protection by a Humanized Anti-IFN-γ Monoclonal Antibody
- 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
- Epidemiology of inherited epidermolysis bullosa in Germany
- Epidermolysis Bullosa
- Epidermolysis bullosa in a mother-infant dyad
- Epidermolysis Bullosa in children: the central role of the pediatrician
- 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-A Different Genetic Approach in Correlation with Genetic Heterogeneity
- Epidermolysis Bullosa-A Kindler Syndrome Case Report and Short Literature Review
- Epidermolysis Bullosa: A Report of Three Cases with Novel Heterozygous Deletions in PLEC and Homozygous Non sense Mutations in COL7A1 Genes
- 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
- Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants
- Exon 8 deletion of KRT5 in epidermolysis bullosa simplex with mottled pigmentation: A case report
- Expanding the spectrum of epidermolysis bullosa simplex: Syndromic epidermolysis bullosa simplex with nephropathy and epilepsy secondary to CD151 tetraspanin defect-a case report and review of the literature
- Eye Involvement and Management in Inherited Epidermolysis Bullosa
- Gastrostomy tube feeding in epidermolysis bullosa: A multi-center assessment of caregiver satisfaction
- Generation of three induced pluripotent stem cell lines (UQACi003-A, UQACi004-A, and UQACi006-A) from three patients with KRT5 epidermolysis bullosa simplex mutations
- Generation of two induced pluripotent stem cell lines (UQACi002-A and UQACi005-A) from two patients with KRT14 epidermolysis bullosa simplex mutations
- Genetic Profile of Epidermolysis Bullosa Cases in King Abdulaziz Medical City, Riyadh, Saudi Arabia
- 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-Induced Pluripotent Stem Cell-Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex
- Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex
- 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
- In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial
- Integrated Management Strategies for Epidermolysis Bullosa: Current Insights
- Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy
- Kinase Inhibition by PKC412 Prevents Epithelial Sheet Damage in Autosomal Dominant Epidermolysis Bullosa Simplex through Keratin and Cell Contact Stabilization
- 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
- Multidisciplinary care for patients with epidermolysis bullosa from birth to adolescence: experience of one Italian reference center
- 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 Alterations in Heritable Epidermolysis Bullosa: A Clinical Study and Literature Review
- 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
- Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN-VI)
- 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 Tips on Epidermolysis Bullosa for Caregivers: Part 2
- Restoring type VII collagen in skin
- 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
- 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
- Treatment of epidermolysis bullosa simplex with dupilumab
- Trial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa
- Whole exome sequencing in a sample of Peruvian patients diagnosed with epidermolysis bullosa