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Research 331–360 of 1000+
- Selected abstracts from the 47th meeting of the Irish Endocrine Society Sligo, 24th & 25th November 2023
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- Correlation analysis of four KRTAP gene polymorphisms and cashmere fiber diameters in two cashmere goat breeds
- Congenital Adrenal Hyperplasia
- Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia
- Biomedical engineering approaches for the delivery of JAGGED1 as a potential tissue regenerative therapy
- Adipocytes in Skin Health and Disease
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
- Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
- An <i>mTurq2-Col4a1</i> mouse model allows for live visualization of mammalian basement membrane development
- Hair & Cutaneous Development
- Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization
- Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits
- Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report
- A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
- Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
- Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
- Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
- Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
- 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
- Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
- Keratin 71 Mutations: From Water Dogs to Woolly Hair
- Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
- Expanding the Phenotypic Spectrum of Olmsted Syndrome
- Connexin 26 (<i>GJB2</i>) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
- Mutations in the Desmoglein 4 Gene Underlie Localized Autosomal Recessive Hypotrichosis with Monilethrix Hairs and Congenital Scalp Erosions
- Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis