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Research 181–210 of 1000+
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Enanthem in Patients With COVID-19 and Skin Rash
- A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers
- Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Genetics of Inherited Ichthyoses and Related Diseases
- 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
- Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes
- 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
- Recently Identified Forms of Epidermolysis Bullosa
- A Homozygous Nonsense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia
- Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
- Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
- Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
- New familial association between ocular coloboma and loose anagen syndrome
- Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
- A novel missense mutation in the mouse hairless gene causes irreversible hair loss: Genetic and molecular analyses of Hrm1Enu
- Sjogren-Larsson syndrome
- 4 Vitamin D resistance
- Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature
- Papillon–Lefèvre Syndrome: A Rare Case Report of Two Brothers and Review of the Literature
- A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
- Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- Congenital atrichia with papular lesions
- The medusa head: Dermoscopic diagnosis of woolly hair syndrome
- Siberian cats help in solving part of the mystery surrounding golden cats
- Topical minoxidil improves congenital hypotrichosis caused by <i>LIPH</i> mutations
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis