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Research 121–150 of 1000+
- Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- Cloning of the human phenol sulfotransferase gene family: three genes implicated in the metabolism of catecholamines, thyroid hormones and drugs
- A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Structure and expression of the ovine Hoxc-13 gene
- 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
- Increased androgen receptor messenger RNA in frontal-parietal hair follicles of women with androgenetic alopecia
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Cornified Epithelial Teeth of Jawless Vertebrates Contain Proteins Similar to Keratin-Associated Proteins of Mammalian Skin Appendages
- Heterozygous <i>COL5A1</i> deletion in a cat with classical Ehlers–Danlos syndrome
- A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
- Characterisation, genomic organisation, expression and function of the mEphA1 receptor Tyrosine Kinase
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Fidelity of the Human Mitochondrial DNA Polymerase
- Female Pseudohermaphroditism Caused by a Novel Homozygous Missense Mutation of the GR Gene
- Hair follicle differentiation: expression, structure and evolutionary conservation of the hair type II keratin intermediate filament gene family
- 5 alpha-reductase-2 gene mutations in the Dominican Republic.
- Esrp1-Regulated Splicing of Arhgef11 Isoforms Is Required for Epithelial Tight Junction Integrity
- Isolation and Characterization of a Novel Hair Follicle–Specific Gene, Hacl-1
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
- A second <i>KRT</i>71 allele in curly coated dogs
- Keratin 71 Mutations: From Water Dogs to Woolly Hair
- Molecular, immunological, enzymatic and biochemical studies of coproporphyrinogen oxidase deficiency in a family with hereditary coproporphyria.
- Genome-based analysis of the genetic pattern of black sheep in Qira sheep
- Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes