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Research 151–180 of 1000+
- Spatiotemporal Expression and Haplotypes Identification of KRT84 Gene and Their Association with Wool Traits in Gansu Alpine Fine-Wool Sheep
- Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
- Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
- Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review
- Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza
- Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Ehlers-Danlos syndrome: From bedside to bench
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes
- Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
- Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
- Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
- Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- The Genetics of Acne
- The Complexity of the Ovine and Caprine Keratin-Associated Protein Genes
- Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
- DataSheet1_Single-Cell Transcriptomics Reveals the Molecular Anatomy of Sheep Hair Follicle Heterogeneity and Wool Curvature.zip
- Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
- Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Inherited Disorders of the Hair
- Nonclassic congenital adrenal hyperplasia
- Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis
- Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review
- Acne