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Research 301–330 of 807
- Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
- PCSK9: From Nature’s Loss to Patient’s Gain
- European Society of Endocrinology Clinical Practice Guideline: Endocrine work-up in obesity
- Genetic Disorders and Defects in Vitamin D Action
- The Lysosomal Protease Cathepsin L Is an Important Regulator of Keratinocyte and Melanocyte Differentiation During Hair Follicle Morphogenesis and Cycling
- FGF Family: From Drug Development to Clinical Application
- Activation of TRPV3 Regulates Inflammatory Actions of Human Epidermal Keratinocytes
- Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
- Trichoscopy in genetic hair shaft abnormalities
- Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness
- Deimination and Peptidylarginine Deiminases in Skin Physiology and Diseases
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
- Differential expression of steroid 5α-reductase isozymes and association with disease severity and angiogenic genes predict their biological role in prostate cancer
- Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
- The Immunological Impact of IL-1 Family Cytokines on the Epidermal Barrier
- Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
- p53 Is a Direct Transcriptional Repressor of Keratin 17: Lessons from a Rat Model of Radiation Dermatitis
- Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5
- Regulatory pathway analysis of coat color genes in Mongolian horses
- The Study on Biological Function of Keratin 26, a Novel Member of Liaoning Cashmere Goat Keratin Gene Family
- Genetic disorders of keratin: are scarring alopecias a sub-set?
- Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
- Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
- UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation
- Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- Semidominant Inheritance in Epidermolytic Ichthyosis
- Pili Torti: A Feature of Numerous Congenital and Acquired Conditions