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    Research 31–60 of 1000+

    1. Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia Orphanet Journal of Rare Diseases · 2026
    2. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    3. Association of AR rs6152G/A gene polymorphism with susceptibility to polycystic ovary syndrome in Chinese women Reproduction, Fertility and Development · 2010 · 15 citations
    4. A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1 Journal of Investigative Dermatology · 1998 · 47 citations
    5. Genetic Variation in the Human Androgen Receptor Gene Is the Major Determinant of Common Early-Onset Androgenetic Alopecia American Journal of Human Genetics · 2005 · 195 citations
    6. Androgen receptor gene polymorphism and polycystic ovary syndrome 2012 · 45 citations
    7. Androgen receptor gene CAG repeat polymorphism in women with polycystic ovary syndrome Fertility and Sterility · 2008 · 44 citations
    8. Androgen Receptor (<i>AR</i>) Gene (CAG)n and (GGN)n Length Polymorphisms and Symptoms in Young Males With Long-Lasting Adverse Effects After Finasteride Use Against Androgenic Alopecia Sexual Medicine · 2016 · 14 citations
    9. The androgen receptor gene polyglycine repeat polymorphism is associated with memory performance in healthy Chinese individuals Psychoneuroendocrinology · 2009 · 9 citations
    10. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features Nature Communications · 2016 · 196 citations
    11. Keratin gene mutations in disorders of human skin and its appendages Archives of Biochemistry and Biophysics · 2010 · 185 citations
    12. Androgen receptor gene polymorphism and biological age markers in men Scientific Reports · 2025
    13. A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene 2024
    14. Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene 2001 · 139 citations
    15. Androgen receptor gene polymorphisms and risk for androgenetic alopecia: a meta-analysis Clinical and Experimental Dermatology · 2011 · 41 citations
    16. Gene expression of type 2 17β hydroxysteroid dehydrogenase in scalp hairs of hirsute women Steroids · 2003 · 28 citations
    17. Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (<i>Hr<sup>rh-R</sup></i>) in the Hairless Gene (<i>Hr</i>) Veterinary pathology · 2010 · 10 citations
    18. A genomic approach to susceptibility and pathogenesis leads to identifying potential novel therapeutic targets in androgenetic alopecia Genomics · 2017 · 13 citations
    19. Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene Endocrine · 2011 · 8 citations
    20. Polymorphisms of the Androgen Receptor Gene and the Estrogen Receptor β Gene Are Associated with Androgen Levels in Women1 The Journal of Clinical Endocrinology and Metabolism · 2001 · 93 citations
    21. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    22. A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1 Journal of genetic medicine · 2018 · 1 citations
    23. The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered <i>Hoxc</i> gene expression in the ears Veterinary Dermatology · 2008 · 10 citations
    24. Null Mutation of 5α-Reductase Type I Gene Alters Ethanol Consumption Patterns in a Sex-Dependent Manner Behavior Genetics · 2014 · 11 citations
    25. Novel mutation in PTCH1 gene in a patient with basal cell nevus syndrome and uterus bicornis Anais Brasileiros de Dermatologia · 2019
    26. A new mutation Rim3 resembling Re den is mapped close to retinoic acid receptor alpha (Rara) gene on mouse Chromosome 11 Mammalian Genome · 1998 · 76 citations
    27. Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain 2018 · 14 citations
    28. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene Journal of Pediatric Endocrinology and Metabolism · 2014 · 10 citations
    29. Polygenic control of the wavy coat of the NCT mouse: involvement of an intracisternal A particle insertional mutation of the protease, serine 53 (Prss53) gene, and a modifier gene Mammalian Genome · 2022
    30. Significance of the polyglutamine tract polymorphism in the androgen receptor Urology · 2001 · 54 citations