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- The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
- Genomic Inbreeding and Runs of Homozygosity Analysis of Cashmere Goat
- Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
- Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene
- Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability
- A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
- Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza
- Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women
- STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
- CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS)
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