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Research 271–300 of 806
- Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
- Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
- An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
- Mast cell hyperplasia in the skin of Dsg4-deficient hypotrichosis mice, which are long-living mutants of lupus-prone mice
- Matriptase-2, A Novel Suppressor of Hepcidin.
- FGF5 is a crucial regulator of hair length in humans
- An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
- 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
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Oral Presentations
- 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
- Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V
- Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
- Recently Identified Forms of Epidermolysis Bullosa
- Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
- Pathogenesis and management of TRPV3-related Olmsted syndrome
- Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
- More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
- Semidominant Inheritance in Epidermolytic Ichthyosis
- Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
- Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
- Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
- Independent DSG4 frameshift variants in cats with hair shaft dystrophy
- Keratin disorders: from gene to therapy
- Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia
- Nonclassic adrenal hyperplasia
- Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason