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Research 541–570 of 1000+
- <i>De novo</i> filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
- Independent DSG4 frameshift variants in cats with hair shaft dystrophy
- A Case of IFAP Syndrome with Severe Atopic Dermatitis
- PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation
- Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report
- 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
- 545 Skin Organoids derived from NCSTN mutated patient-induced pluripotent stem cells recapitulate Hidradenitis Suppurativa pathogenic hallmarks
- A Neonate with Blisters
- 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
- Salt-losing tubulopathy and chronic dermatitis
- Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
- Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
- Chrousos syndrome: from molecular pathogenesis to therapeutic management
- Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- Editors' Picks
- Angora Mouse Mutation: Altered Hair Cycle, Follicular Dystrophy, Phenotypic Maintenance of Skin Grafts, and Changes in Keratin Expression
- Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
- A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
- Aromatase deficiency in a male patient - Case report and review of the literature.
- Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
- First symposium on natural gene therapy of the skin
- Developmental Genetics of Color Pattern Establishment in Cats
- Clinical and molecular genetic studies in hereditary hair loss
- Inherited Epidermolysis Bullosa: A Clinical Case
- Compound Heterozygous Mutations in <i>Forkhead Box N1</i> (<i>FOXN1</i>) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
- 1379 Cell of origin contributes to the melanoma diversity