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Research 301–330 of 1000+
- A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the <i>TRPS1</i> Gene
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
- Inflammatory bowel disease: pathogenesis, diagnosis and current therapeutic approach
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- The Rotterdam Study: objectives and design update
- Wnt/β-catenin signalling: function, biological mechanisms, and therapeutic opportunities
- Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
- The genetics of alopecia areata: New approaches, new findings, new treatments
- Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles
- Alopecia areata: What’s new in the epidemiology, comorbidities, and pathogenesis?
- Integrated single-cell chromatin and transcriptomic analyses of human scalp identify gene-regulatory programs and critical cell types for hair and skin diseases
- Recently Identified Forms of Epidermolysis Bullosa
- Rare and common genetic determinants of metabolic individuality and their effects on human health
- 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
- The Genetic Architecture of Alopecia Areata
- Hedgehog Pathway Inhibitors against Tumor Microenvironment
- Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5
- Merkel cell carcinoma: updates in tumor biology, emerging therapies, and preclinical models
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Somatic Mutations in Normal Tissues: New Perspectives on Early Carcinogenesis
- Developing Patient-Derived 3D-Bioprinting models of pancreatic cancer
- Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
- The Search for the Causes of Common Hyperandrogenism, 1965 to Circa 2015
- Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
- Evidence on Hidradenitis Suppurativa as an Autoinflammatory Skin Disease
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Cellular Heterogeneity and Plasticity of Skin Epithelial Cells in Wound Healing and Tumorigenesis
- Overexpression of hypoxia-inducible factor-1α in hidradenitis suppurativa: the link between deviated immunity and metabolism
- Genetic Variants and Protective Immunity against SARS-CoV-2
- A Concise Review of Organoid Tissue Engineering: Regenerative Applications and Precision Medicine