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Research 271–300 of 1000+
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
- Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development
- Matriptase-2, A Novel Suppressor of Hepcidin.
- Recently Identified Forms of Epidermolysis Bullosa
- Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse
- Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
- BH15 Nonsyndromic hypotrichosis: a rare case of congenital hypotrichosis 15 and management with minoxidil
- An essential role for <i>Rxrα</i> in the development of Th2 responses
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- A kindred with mutant IKAROS and autoimmunity
- Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
- Impaired Notch‐MKP‐1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology
- Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
- Translational perspectives in HTRA1-associated disorders: biomarkers, gene therapy, and future directions
- Pathogenesis and management of TRPV3-related Olmsted syndrome
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
- Combined drug triads for synergic neuroprotection in retinal degeneration
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
- A Case Report and a Review of TRAPPC4‐Related TRAPPopathy
- Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
- Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia
- N‑K GM SERIES: THE COMPLETE GEOMETRIC MEDICINE LIBRARY — From Discovery to Deployment: SELECTIVE‑ANTI‑BACTERIAL‑GM2, SELECTIVE‑ANTI‑PATHOGENIC‑FUNGI‑GM2, and the CMC Pocket Delivery System A Comprehensive Framework for Precision Antimicrobials — 1,000,000,000:1 Selectivity, Zero Ecological Harm, Free for Humanity
- Therapeutics for COVID-19 and post COVID-19 complications: An update
- Acne-associated syndromes: models for better understanding of acne pathogenesis
- Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia
- Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses