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Research 61–90 of 1000+
- Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient
- Recently Identified Forms of Epidermolysis Bullosa
- Human Pigmentation: A Review of Molecular Mechanisms, Genetic Architecture, Evolution, Forensic DNA Phenotyping and Health Implications
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Microalgal Biofactories: Sustainable Solutions for Nutrition and Cosmetics
- Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients
- A Case Report of Werner’s Syndrome With a Novel Mutation From India
- Genetic Susceptibility to Alopecia
- Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- Recent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor
- Oncogenic senescence: a multi-functional perspective
- Production of mannosylerythritol lipids and their application in cosmetics
- DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype
- Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
- Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
- Recent Advances in Multiple Strategies for the Biosynthesis of Sesquiterpenols
- 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
- Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
- A Case to Tear One's Hair Out: Trichotillomania in Wilson's Disease
- Effect of calcium supplementation on bone deformity and histopathological findings of skin papules in a pediatric patient with vitamin D–dependent rickets type 2A: a case report
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- Immune mechanisms associated with sex-based differences in severe COVID-19 clinical outcomes
- Ehlers-Danlos syndrome: From bedside to bench