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Research 901–930 of 1000+
- A kindred with mutant IKAROS and autoimmunity
- Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
- Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
- The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i>
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
- Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
- Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
- RNA sequencing reveals lncRNA-mediated non-mendelian inheritance of feather growth change in chickens
- Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene
- Insights learned from L457(3.43)R, an activating mutant of the human lutropin receptor
- Participation of CD34-enriched mouse adipose cells in hair morphogenesis
- Sebaceous gland abnormalities in fatty acyl CoA reductase 2 (Far2) null mice result in primary cicatricial alopecia
- Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
- Variant 1859G→A (Arg620Gln) of the “Hairless” Gene: Absence of Association with Papular Atrichia or Androgenetic Alopecia
- Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity
- Skin morphology of the mutant hairless USP mouse
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
- Variation in the ovine trichohyalin gene and its association with wool curvature
- Establishment of Tsc2-deficient rat embryonic stem cells
- Congenital atrichia with papular lesions
- Homozygous whole body <i>Cbs</i> knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
- Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
- Pitfalls of PCR-Based Strategy for Genotyping <i>Cre-Loxp</i> Mice
- Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
- Exploring the efficacy of testosterone undecanoate in male children with 5α‐reductase deficiency
- Roux-en-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiency
- Ashwagandha root in the treatment of non-classical adrenal hyperplasia
- Genetic and other epidemiological risk factors of infants and children with hypospadias: a case control study
- Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson–Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies
- Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands