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Research 271–300 of 1000+
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
- Role of <i>foxn1</i> in <i>Xenopus laevis</i> thymopoiesis.
- Collodion baby to bathing suit ichthyosis: A 6-year follow-up
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Over-, ectopic-expression of FoxN1 at early life adversely influences lymphopoiesis (HEM3P.280)
- FoxN1 in K14 promoter-driven epithelium is required for generation and maintenance of 3D-thymus medulla and preventing nude phenotype in the skin (36.33)
- Genetic interplays between Msx2 and Foxn1 are required for Notch1 expression and hair shaft differentiation
- Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ
- Genetically separable determinants of hair keratin gene expression
- Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
- Enriching Proteolysis Targeting Chimeras with a Second Modality: When Two Are Better Than One
- Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature
- Autophagy critically controls skin inflammation and apoptosis-induced stem cell activation
- Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
- Autotaxin-LPA signaling contributes to obesity-induced insulin resistance in muscle and impairs mitochondrial metabolism
- Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
- Two Hydroxyproline Galactosyltransferases, GALT5 and GALT2, Function in Arabinogalactan-Protein Glycosylation, Growth and Development in Arabidopsis
- SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
- Congenital atrichia with papular lesions
- Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab
- Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
- Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report
- Differential sensitivity of epidermal cell subpopulations to β-catenin-induced ectopic hair follicle formation
- Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse
- Ashwagandha root in the treatment of non-classical adrenal hyperplasia
- Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
- Zinc and Zinc Transporters in Dermatology