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Research 181–210 of 1000+
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
- Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant
- Integrating multi-omics analyses of Nonomuraea dietziae to reveal the role of soybean oil in [(4′-OH)MeLeu]4-CsA overproduction
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review
- De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
- Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives
- Recently Identified Forms of Epidermolysis Bullosa
- Recent Advances in Multiple Strategies for the Biosynthesis of Sesquiterpenols
- Genetically separable determinants of hair keratin gene expression
- Two Hydroxyproline Galactosyltransferases, GALT5 and GALT2, Function in Arabinogalactan-Protein Glycosylation, Growth and Development in Arabidopsis
- Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse
- Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
- Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
- White piedra and pediculosis capitis in the same patient
- Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy
- Premature aging syndromes: From patients to mechanism
- HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
- Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
- Role of <i>foxn1</i> in <i>Xenopus laevis</i> thymopoiesis.
- Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
- 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
- Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- The Roles of Keratinocytes in the Initiation, Progression and Maintenance of Hidradenitis Suppurativa
- Combinatorial Biosynthesis of Sulfated Benzenediol Lactones with a Phenolic Sulfotransferase from Fusarium graminearum PH-1
- Genetic Disorders and Defects in Vitamin D Action