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Research 301–330 of 1000+
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Structural and epistatic regulatory variants cause hallmark white spotting in cattle
- Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development
- Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
- Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
- Regulatory pathway analysis of coat color genes in Mongolian horses
- Effects of SLC45A2 and GPNMB on Melanin Deposition Based on Transcriptome Sequencing in Chicken Feather Follicles
- Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
- Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study
- Tracing the cellular origin of cancer
- Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data
- From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?
- Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
- Efficient Gene Editing for Heart Disease via ELIP-Based CRISPR Delivery System
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
- The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
- Role of polymorphism of the androgen receptor gene andnon-random x chromosome inactivation in the pathogenesisof androgenic alopecia
- Sex hormones and acne
- Nonclassic 21-hydroxylase deficiency
- The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China
- Evidence on Hidradenitis Suppurativa as an Autoinflammatory Skin Disease
- Spectrum of Phenotypes Associated with Human MC1R Variations
- Cells to Surgery Quiz: April 2020
- Human epidermal neural crest stem cells as a source of Schwann cells
- Integrative analysis of rare copy number variants and gene expression data in alopecia areata implicates an aetiological role for autophagy
- Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
- RNA-seq analysis identifies key genes enhancing hoof strength to withstand barefoot racing in Standardbred trotters
- Stimuli-Sensitive Nanocarriers for Diagnostic and Therapy