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Research 181–210 of 1000+
- Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
- Development and evaluation of novel rodent model of PCOS mimicking clinical phenotype in human disease
- Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome
- Ox40-Cre–mediated deletion of BRD4 reveals an unexpected phenotype of hair follicle stem cells in alopecia
- A Systematic Scoping Review and Conceptual Analysis of New-Onset Fibromyalgia Manifestations After Non-Hospitalized COVID-19: Empirics, Definitions, Methodologies, Pathophysiology, Mapping of Literature, and Knowledge Gaps
- An Indian Evidence-Based Study of Prevalence, Phenotypic Features, Lifestyle Modifications of Polycystic Ovarian Syndrome Patients
- Proteomic Predictors of Baricitinib Response in Severe Alopecia Areata: CCL11 Flags a Refractory Phenotype
- Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
- Alopecia in Patients with Collagen VI-Related Myopathies: A Novel/Unrecognized Scalp Phenotype
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- 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
- A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
- Inherited Disorders of Corneocyte Proteins
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield
- Association between <i>IL16</i> gene polymorphisms and susceptibility to alopecia areata in the Korean population
- Recently Identified Forms of Epidermolysis Bullosa
- Sarcoidosis: Are there differences in your skin of color patients?
- Polycystic Ovary Syndrome and NC-CAH: Distinct Characteristics and Common Findings. A Systematic Review
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- Effect of Hyaluronic Acid and Poly-L-Lactic Acid Dermal Fillers on Collagen Synthesis: An in vitro and in vivo Study
- Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Epigenetic mechanism of Gtl2-miRNAs causes the primitive sheep characteristics found in purebred Merino sheep
- Aqueous Dispersion of Unmodified Fullerene C60: Stimulation of Hair Growth and Study of a New Molecular Target for Interaction
- Polycystic Ovarian Syndrome: The Androgenized Adolescent
- Recalcitrant Female Pattern Hair Loss Like Alopecia Unveils Unexpected Rare Entity
- COVID-19 and endocrine and metabolic diseases. An updated statement from the European Society of Endocrinology