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Research 30 of 185
- 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)
- Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
- Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
- Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness
- Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus
- Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
- Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
- Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
- Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
- Keratin disorders: from gene to therapy
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Reversing wrinkled skin and hair loss in mice by restoring mitochondrial function
- Nonclassic adrenal hyperplasia
- SLE and Serum Complement: Causative, Concomitant or Coincidental?
- Cell wall-associated ROOT HAIR SPECIFIC 10, a proline-rich receptor-like kinase, is a negative modulator of Arabidopsis root hair growth
- <i>WNT10A</i> , dermatology and dentistry
- Differential diagnosis of hair loss in children. Differentialdiagnose des Haarausfalls bei Kindern
- The Genetics of Human Skin Disease
- Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Hirsutism in the Adolescent Female