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Research 241–270 of 1000+
- Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
- Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome
- Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
- The Role of the Hairless (hr) Gene in the. Regulation of Hair Follicle Catagen Transformation
- HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome
- An epistatic effect of KRT25 on SP6 is involved in curly coat in horses
- Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
- Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
- Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
- Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
- Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
- A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia
- FOXN1 deficient nude severe combined immunodeficiency
- Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene
- 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
- Human Regulatory T Cells: Understanding the Role of Tregs in Select Autoimmune Skin Diseases and Post-Transplant Nonmelanoma Skin Cancers
- Myotonic Dystrophy—A Progeroid Disease?
- Genetic Disorders and Defects in Vitamin D Action
- A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
- Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty
- Pleiotropic Role of Notch Signaling in Human Skin Diseases
- UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation
- Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82
- A review of genotrichoses and hair pathology associated with inherited skin diseases
- Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- EBS in Children with De Novo Pathogenic Variants Disturbing Krt14