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    Research 181–210 of 186

    1. Congenital Adrenal Hyperplasia IntechOpen eBooks · 2022
    2. Fleece traits and important physical properties of hair fibers in lori goats. Iranian Journal of Applied Animal Science · 2013
    3. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review Hormones · 2018 · 39 citations
    4. Severe Abnormalities in the Oral Mucosa Induced by Suprabasal Expression of Epidermal Keratin K10 in Transgenic Mice Journal of Biological Chemistry · 2002 · 15 citations
    5. From bedside to bench: regulation of host factors in SARS-CoV-2 infection Experimental and Molecular Medicine · 2021 · 4 citations
    6. Endocrinology Clinical Chemistry and Laboratory Medicine · 2023
    7. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome Case reports in genetics · 2015 · 7 citations
    8. Genomic Inbreeding and Runs of Homozygosity Analysis of Cashmere Goat Animals · 2024 · 15 citations
    9. Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype Curēus · 2023 · 1 citations
    10. Alopecia Universalis Associated with a Mutation in the Human <i>hairless</i> Gene Science · 1998 · 412 citations
    11. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability European Journal of Human Genetics · 2015 · 19 citations
    12. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    13. Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza Scientific reports · 2020 · 8 citations
    14. Testosterone levels in relation to oral contraceptive use and the androgen receptor CAG and GGC length polymorphisms in healthy young women Human Reproduction · 2006 · 25 citations
    15. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    16. CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS) Hormone and Metabolic Research · 2013 · 9 citations
    17. Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India International Journal of experimental research and review · 2024 · 2 citations
    18. Detection of a Novel Missense Mutations in Atrichia with Papular Lesions Annals of Dermatology · 2011 · 4 citations
    19. Recent positive selection of a human androgen receptor/ectodysplasin A2 receptor haplotype and its relationship to male pattern baldness Human Genetics · 2009 · 42 citations
    20. Adenomatous Polyposis Coli (APC) Is Required for Normal Development of Skin and Thymus PLoS Genetics · 2006 · 184 citations
    21. Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase PLoS Genetics · 2010 · 73 citations
    22. Riboflavin-responsive glutaryl CoA dehydrogenase deficiency Molecular Genetics and Metabolism · 2005 · 25 citations
    23. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    24. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    25. Keratin disorders: from gene to therapy 2011 · 109 citations
    26. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    27. Reversing wrinkled skin and hair loss in mice by restoring mitochondrial function Cell death and disease · 2018 · 74 citations
    28. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    29. SLE and Serum Complement: Causative, Concomitant or Coincidental? The Open Rheumatology Journal · 2017 · 39 citations
    30. Cell wall-associated ROOT HAIR SPECIFIC 10, a proline-rich receptor-like kinase, is a negative modulator of Arabidopsis root hair growth Journal of Experimental Botany · 2016 · 33 citations