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Research 421–450 of 1000+
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
- 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
- Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
- A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
- 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
- Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix 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
- 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
- Forme létale de syndrome de Netherton au sein d’une famille multiplex consanguine
- Congenital atrichia with papular lesions
- Monilethrix
- Mutation des menschlichen hairless -Gens bei Atrichia universalis
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
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