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Research 61–90 of 784
- Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix
- Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- Ichthyosis Follicularis With Alopecia and Photophobia
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
- Genetics of Inherited Ichthyoses and Related Diseases
- Care of the newborn with ichthyosis
- Inherited ichthyosis: Syndromic forms
- Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
- Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin
- Ichthyosis with confetti: clinics, molecular genetics and management
- Ichthyosis follicularis with alopecia and photophobia in a mother and daughter
- A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
- Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
- Nutritional Status and Gastrointestinal Structure and Function in Children With Ichthyosis and Growth Failure
- The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i>
- Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
- Follicular ichthyosis
- A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Recent advances in congenital ichthyoses
- Ichthyosis with confetti: a rare diagnosis and treatment plan
- Ichthyosis hystrix
- A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
- A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
- Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin
- Exploring the Relationship Between Ichthyosis and Scalp Paresthesia: Potential Connection and Treatment Approach with Fluocinolone
- Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
- Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man