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Research 121–150 of 1000+
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
- Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
- Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
- Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
- Sjogren-Larsson syndrome
- Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes
- Disorders of Keratinization
- A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
- Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
- Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature
- Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
- Hair Shaft Videodermoscopy in Netherton Syndrome
- LEKTI: Netherton Syndrome and Atopic Dermatitis
- Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome
- Clinical Snippets
- [Netherton's syndrome in two sisters].
- Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
- Netherton Syndrome
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- 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
- Congenital Atrichia: A Case Report
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
- Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
- Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis
- Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
- Semidominant Inheritance in Epidermolytic Ichthyosis