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Research 541–570 of 1000+
- Ichthyosis with confetti: clinics, molecular genetics and management
- FOXN1 deficient nude severe combined immunodeficiency
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Evaluation of Personalized Skincare Through in-silico Gene Interactive Networks and Cellular Responses to UVR and Oxidative Stress
- Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
- Challenges in treatment of patients with non-classic congenital adrenal hyperplasia
- DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
- E-Poster
- Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
- Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
- Autosomal recessive hereditary hypotrichosis simplex: A case report
- A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
- Junctional Epidermolysis Bullosa, Generalized Intermediate Type
- Male-pattern hair loss: Comprehensive identification of the associated genes as a basis for understanding pathophysiology
- Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
- Forensic DNA Phenotyping
- Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
- Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies
- Rare and common genetic determinants of metabolic individuality and their effects on human health
- A Kaleidoscope of Keratin Gene Expression and the Mosaic of Its Regulatory Mechanisms
- Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
- The Roles of EDA2R in Ageing and Disease
- Elucidating causal relationships of diet-derived circulating antioxidants and the risk of non-scarring alopecia: A Mendelian randomization study
- The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study
- Genetic Prediction of Eye, Hair, and Skin Color: Forensic Applications and Challenges in Latin American Populations
- Congenital Adrenal Hyperplasia
- Transcriptomic regulation of seasonal coat color change in hares
- Antiandrogens as Therapies for COVID-19: A Systematic Review
- Structural and epistatic regulatory variants cause hallmark white spotting in cattle
- A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency