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Research 541–570 of 1000+
- Human ClinicalPhenotype Associated with FOXN1 Mutations
- Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
- PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
- A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
- Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
- Insertional mutation of the hairless locus on mouse Chromosome 14
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population
- Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
- A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
- A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
- Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
- Somatic Mutations in Normal Tissues: New Perspectives on Early Carcinogenesis
- A missense mutation in the P2RY5 gene leading to autosomal recessive woolly hair in a Syrian patient
- Two familial cases of Olmsted-like syndrome with a G573V mutation of the<i>TRPV3</i>gene
- Prevalent founder mutation c.736T>A of <i>LIPH</i> in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- 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
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Connexin 26 (<i>GJB2</i>) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
- Congenital atrichia with papular lesions resulting from novel mutations in human hairless gene in four consanguineous families
- Marie Unna hereditary hypotrichosis: A Turkish family with loss of eyebrows and a <i>U2HR</i> mutation
- Hague (<i>Hag</i>): A New Mouse Hair Mutation With an Unstable Semidominant Allele
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (<i>Hr<sup>rh-R</sup></i>) in the Hairless Gene (<i>Hr</i>)