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Research 31–60 of 1000+
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- Sjogren-Larsson syndrome
- A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
- An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
- Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis
- Current Genetics in Hair Diseases
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Semidominant Inheritance in Epidermolytic Ichthyosis
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
- Clinical Snippets
- A review of genotrichoses and hair pathology associated with inherited skin diseases
- Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
- Ectodermal Dysplasia: Variable Expressions
- Congenital Atrichia: A Case Report
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Hair Follicular Expression and Function of Group X Secreted Phospholipase A2 in Mouse Skin
- Netherton Syndrome With Trichorrhexis Invaginata “Bamboo Hair” Under Dermoscopy: Case Images
- A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
- Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention
- Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
- Congenital hair loss disorders: Rare, but not too rare
- Male fertility and skin diseases
- Comparative genomics analyses of alpha-keratins reveal insights into evolutionary adaptation of marine mammals
- Connexin mutations in human disease