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    Research 871–900 of 1000+

    1. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity Journal of Rare Diseases · 2024
    2. Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy Pediatric Endocrinology Diabetes and Metabolism · 2024 · 1 citations
    3. A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome American journal of medical genetics. Part A · 2023
    4. Letter from Brisbane [Letters to editor] Journal of Human Genetics · 2011
    5. Filaggrin mutations as an archetype for understanding the pathophysiology of atopic dermatitis Journal of The American Academy of Dermatology · 2014 · 3 citations
    6. Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b The Journal of Dermatology · 2013 · 4 citations
    7. Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats Journal of Heredity · 2007 · 75 citations
    8. Site of beige (<i>bg</i>) and leaden (<i>ln</i>) pigment gene expression determined by recombinant embryonic skin grafts and aggregation mouse chimaeras employing sash (<i>W</i><sup><i>sh</i></sup>) homozygotes Genetics Research · 1985 · 7 citations
    9. The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects Developmental Dynamics · 2006 · 49 citations
    10. W locus alleles of the KIT Gene in Turkish Van Cats and Their Association with Certain Phenotypes Van Sağlık Bilimleri Dergisi · 2022
    11. Evaluation of DNA Variants Associated with Androgenetic Alopecia and Their Potential to Predict Male Pattern Baldness PLOS ONE · 2015 · 48 citations
    12. Interactions between epidermal growth factor and the <i>Tabby</i> mutation in skin Experimental Dermatology · 1998 · 6 citations
    13. Systemic testosterone induces structural, immunological, and sex steroid receptor changes in human XX skin Scientific Reports · 2026
    14. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    15. Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds BMC Veterinary Research · 2021 · 55 citations
    16. <i>AXR3</i>and<i>SHY2</i>interact to regulate root hair development Development · 2003 · 157 citations
    17. Nuclear Localization of STAT5A Modified with O-Linked N-Acetylglucosamine and Early Involution in the Mammary Gland of Hirosaki Hairless Rat Journal of Biological Chemistry · 2005 · 17 citations
    18. Recent advances in congenital ichthyoses 2015 · 10 citations
    19. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype PLOS genetics · 2019 · 24 citations
    20. Taking advantage from phenotype variability in a local animal genetic resource: identification of genomic regions associated with the hairless phenotype in Casertana pigs Animal Genetics · 2018 · 16 citations
    21. HuR ablation destabilizes Foxp3 mRNA and impairs regulatory T cell function, contributing to an autoimmune phenotype Frontiers in Immunology · 2025 · 1 citations
    22. Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations Journal of Clinical Immunology · 2021 · 30 citations
    23. Prediction of male-pattern baldness from genotypes European Journal of Human Genetics · 2015 · 37 citations
    24. KLK5 and KLK7 Ablation Fully Rescues Lethality of Netherton Syndrome-Like Phenotype PLoS Genetics · 2017 · 87 citations
    25. Restoring neuropetide Y levels in the hypothalamus ameliorates premature aging phenotype in mice GeroScience · 2025 · 4 citations
    26. Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment Scientific Reports · 2024 · 13 citations
    27. Hair phenotype diversity across Indriidae lemurs bioRxiv (Cold Spring Harbor Laboratory) · 2021 · 2 citations
    28. Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases Scientific Reports · 2015 · 85 citations
    29. The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle Animal Genetics · 2007 · 51 citations
    30. The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of <i>HOXC10</i> G3 Genes Genomes Genetics · 2021 · 29 citations