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Research 331–360 of 1000+
- Myotonic Dystrophy—A Progeroid Disease?
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review
- The Safety and Efficacy of Tofacitinib in 24 Cases of Pediatric Rheumatic Diseases: Single Centre Experience
- Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
- Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
- Premature aging syndromes: From patients to mechanism
- Novel and recurrent mutations in the <i>AIRE</i> gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
- Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
- Human Hair Graying Revisited: Principles, Misconceptions, and Key Research Frontiers
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- β1 Integrins with Individually Disrupted Cytoplasmic NPxY Motifs Are Embryonic Lethal but Partially Active in the Epidermis
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- The Notch Intracellular Domain Has an RBPj-Independent Role during Mouse Hair Follicular Development
- Misdiagnosis as asphyxiating thoracic dystrophy and CMV-associated haemophagocytic lymphohistiocytosis in Shwachman-Diamond syndrome
- Gene network analysis reveals candidate genes related with the hair follicle development in sheep
- Approach to androgen excess in women: Clinical and biochemical insights
- Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
- Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
- UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation
- Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
- Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (<i>Hr<sup>rh-R</sup></i>) in the Hairless Gene (<i>Hr</i>)
- Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome
- A review of genotrichoses and hair pathology associated with inherited skin diseases
- Transglutaminase Activity Is Conserved in Stratified Epithelia and Skin Appendages of Mammals and Birds
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
- Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Evolution, classification, structure, and functional diversification of steroid 5α-reductase family in eukaryotes
- Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis