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Research 91–120 of 329
- Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
- Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2
- Impaired Hair Follicle Morphogenesis and Cycling with Abnormal Epidermal Differentiation in nackt Mice, a Cathepsin L-Deficient Mutation
- Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- Hereditary 1,25‐Dihydroxyvitamin D‐Resistant Rickets in a Pomeranian Dog Caused by a Novel Mutation in the Vitamin D Receptor Gene
- Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
- 199 Impairment of notch 1 signaling is a common defect in lesions from patients with hidradenitis suppurativa
- Molecular basis of androgen insensitivity
- Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice
- Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
- Phenotyping mice with skin, hair, or nail abnormalities: A systematic approach and methodologies from simple to complex
- In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
- <i>De novo</i> filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
- Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience
- Author response: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma
- Biotin and biotinidase deficiency
- Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
- Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
- The nude gene and the skin
- Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
- Membrane androgen receptors may mediate androgen reinforcement
- Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
- Clinical Snippets
- Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
- Editors' Picks
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- FGF5 is a crucial regulator of hair length in humans