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    Research 331–360 of 1000+

    1. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations
    2. Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2025
    3. Trichoscopy in Unveiling the Triad of Netherton Syndrome Clinical Dermatology Review · 2025
    4. Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development Case Reports in Genetics · 2025
    5. Pathogenesis and management of TRPV3-related Olmsted syndrome Frontiers in Genetics · 2024
    6. The role of functional variants in the aetiology of polycystic ovary syndrome Murdoch Research Repository (Murdoch University) · 2017
    7. In This Issue Journal of Clinical Investigation · 2011
    8. Cantú Syndrome Is Caused by Mutations in ABCC9 The American Journal of Human Genetics · 2012 · 148 citations
    9. Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata The American Journal of Human Genetics · 2007 · 143 citations
    10. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    11. Wool Keratin-Associated Protein Genes in Sheep—A Review Genes · 2016 · 98 citations
    12. Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease Frontiers in immunology · 2020 · 41 citations
    13. Regulatory pathway analysis of coat color genes in Mongolian horses Hereditas · 2017 · 14 citations
    14. Selection signatures of wool color in Gangba sheep revealed by genome-wide SNP discovery BMC Genomics · 2024 · 9 citations
    15. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    16. Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan Genes · 2016 · 9 citations
    17. Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis Journal of Investigative Dermatology · 2016 · 8 citations
    18. Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families BMC Ophthalmology · 2024 · 6 citations
    19. Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis 2022 · 6 citations
    20. CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico Anais Brasileiros de Dermatologia · 2020 · 6 citations
    21. Predicting Human Appearance from DNA for Forensic Investigations Security science and technology · 2016 · 5 citations
    22. Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes Animals · 2024 · 4 citations
    23. Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population The Application of Clinical Genetics · 2021 · 3 citations
    24. RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS 2017 · 2 citations
    25. Genome-Wide Association Study for Body Conformation Traits in Kazakh Fat-Tailed Coarse-Wool Sheep Genes · 2025 · 1 citations
    26. A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus American Journal of Medical Genetics Part A · 2025
    27. Causal relationship between gut microbiota and androgenetic alopecia: A Mendelian randomization study Medicine · 2024
    28. Genome-Wide Association Studies of Hair Whorl in Pigs Genes · 2024
    29. The evaluation of IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms in Egyptian patients with alopecia areata: a case–control study Egyptian Journal of Medical Human Genetics · 2024
    30. A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice Neurobiology of aging · 2008 · 62 citations