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Research 121–150 of 1000+
- Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
- 46,XY DSD due to impaired androgen production
- Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
- Androgen receptor gene polymorphism and polycystic ovary syndrome
- Spinal and bulbar muscular atrophy: pathogenesis and clinical management
- Non polycystic ovary syndrome–related endocrine disorders associated with hirsutism
- Vitamin D receptor polymorphisms and the polycystic ovary syndrome: A systematic review
- FOXN1 Deficiency: from the Discovery to Novel Therapeutic Approaches
- Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements
- Psoriasis patients demonstrate HLA-Cw*06:02 allele dosage-dependent T cell proliferation when treated with hair follicle-derived keratin 17 protein
- The Genetics of Human Skin Disease
- Evaluation of androgen receptor gene as a candidate gene in female androgenetic alopecia
- Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?
- Androgenic Alopecia Is Associated with Less Dietary Soy, Higher Blood Vanadium and rs1160312 1 Polymorphism in Taiwanese Communities
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia)
- Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
- Disease causing homozygous variants in the human hairless gene
- Darier Sign: A Historical Note
- Abstracts
- HuR ablation destabilizes Foxp3 mRNA and impairs regulatory T cell function, contributing to an autoimmune phenotype
- Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta
- Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
- Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia
- Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
- 9. Immunology and Genetics
- Main Plenary Sessions: Summaries of Papers
- National scientific medical meeting 1996 abstracts