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Research 31–60 of 1000+
- Keratin gene mutations in disorders of human skin and its appendages
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Novel missense mutation in the EDA gene in a family affected by oligodontia
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
- Mutation in 5′ upstream region of <i>GCH</i> I gene causes familial dopa-responsive dystonia
- Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
- EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
- Novel and recurrent mutations in the <i>AIRE</i> gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
- Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix
- Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
- ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
- A Case Report of Werner’s Syndrome With a Novel Mutation From India
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
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- 284 Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
- Decay of Skin-Specific Gene Modules in Pangolins
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- Deciphering the pathogenesis of central centrifugal cicatricial alopecia
- Convergent Decay of Skin-specific Gene Modules in Pangolins
- Independent DSG4 frameshift variants in cats with hair shaft dystrophy
- The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
- Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
- The hairless (hr) gene is involved in the congential hypotrichosis of Valle del Belice sheep
- Interactions of the Vitamin D Receptor with the Corepressor Hairless
- Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV)