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Research 31–60 of 597
- Acne-Associated Syndromes
- Genetic Defects of Female Sexual Differentiation
- Acne-associated syndromes: models for better understanding of acne pathogenesis
- Diagnostic approach to low‐renin hypertension
- Biology and Genetics of Hair
- Dermatopathology and molecular genetics
- The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
- Inherited Disorders of the Hair
- RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
- Current Genetics in Hair Diseases
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling
- Recently Identified Forms of Epidermolysis Bullosa
- Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
- Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
- Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models
- A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus
- Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
- Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
- Myotonic Dystrophy—A Progeroid Disease?
- Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
- Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells
- Phenotypic heterogeneity in human genetic diseases: ultrasensitivity-mediated threshold effects as a unifying molecular mechanism
- WNT Signaling in Disease
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
- Molecular pathology of skin adnexal tumours
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency