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Research 121–150 of 1000+
- The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
- Generation of Cashmere Goats Carrying an <i>EDAR</i> Gene Mutant Using CRISPR-Cas9-Mediated Genome Editing
- Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
- Deletion of the Developmentally Essential Gene ATR in Adult Mice Leads to Age-Related Phenotypes and Stem Cell Loss
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Analysis of the FGF gene family provides insights into aquatic adaptation in cetaceans
- A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions
- Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
- 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
- PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
- Current Genetics in Hair Diseases
- Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
- Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
- Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
- Independent DSG4 frameshift variants in cats with hair shaft dystrophy
- Hair Follicle-Related MicroRNA-34a Serum Expression and rs2666433A/G Variant in Patients with Alopecia: A Cross-Sectional Analysis
- Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
- Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
- Nonclassic adrenal hyperplasia
- A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
- Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
- Polymorphism of the Androgen Receptor Gene is Associated with Male Pattern Baldness
- Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
- Spinal and bulbar muscular atrophy: pathogenesis and clinical management
- Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women
- Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
- Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
- Structural perspectives on the androgen receptor, the elusive shape-shifter
- Androgen Receptor Ligands: Agonists and Antagonists
- Two mutations at KRT74 and EDAR synergistically drive the fine-wool production in Chinese sheep