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    Research 91–120 of 1000+

    1. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    2. Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep Genes · 2026
    3. The systemic wrinkled skin phenotype involves aberrant expression and variation of genes related to the oxidative stress and extracellular matrix in Xiang pigs BMC Genomics · 2025
    4. Recessive Epidermolysis Bullosa Simplex Phenotype Reproduced in Vitro American Journal Of Pathology · 2003 · 20 citations
    5. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    6. Case Report:Pregnancy and birth in a mild phenotype of Alström syndrome Frontiers in Genetics · 2022 · 5 citations
    7. 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
    8. Correlation Analysis of CXCL10, FOS, HOXC13, and WNT4 Gene Polymorphisms with Key Economic Traits—Initial Population Screening for Jiangnan Cashmere Goats Genes · 2025
    9. Mendelian Randomization Identifies CD25+ CD4+ Tregs and Plasma Proteins in Androgenetic Alopecia Pathogenesis Clinical Cosmetic and Investigational Dermatology · 2025
    10. Morphogenesis and maintenance of the 3D thymic medulla and prevention of nude skin phenotype require FoxN1 in pre- and post-natal K14 epithelium Journal of molecular medicine · 2010 · 21 citations
    11. New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene BMC medical genetics · 2014 · 9 citations
    12. Elevated Dehydroepiandrosterone Sulfate Levels as the Reproductive Phenotype in the Brothers of Women with Polycystic Ovary Syndrome The Journal of Clinical Endocrinology & Metabolism · 2002 · 27 citations
    13. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    14. Loss of epidermal Evi/Wls results in a phenotype resembling psoriasiform dermatitis 2013 · 51 citations
    15. Coloration in Equine: Overview of Candidate Genes Associated with Coat Color Phenotypes Animals · 2024 · 4 citations
    16. Betaine supplementation is less effective than methionine restriction in correcting phenotypes of CBS deficient mice Journal of inherited metabolic disease · 2015 · 19 citations
    17. Whole genome sequencing analysis of alpaca suggests TRPV3 as a candidate gene for the suri phenotype BMC genomics · 2024
    18. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999 · 62 citations
    19. HSD3B1 gene polymorphism and female pattern hair loss in women with polycystic ovary syndrome Journal of the Formosan Medical Association · 2019 · 7 citations
    20. Diagnostic Value of VDR in Bone Metastasis and Prognosis of Patients with Breast Cancer and Expression Correlation between Vitamin D Receptor and Hairless Protein Oncology Research and Treatment · 2021 · 6 citations
    21. Spatiotemporal regulation of acute wound healing by the NLRP3 inflammasome: dual roles in macrophage-fibroblast chemotaxis and phenotype during wound repair Burns & Trauma · 2026
    22. Keratin 17 Expression in the Hard Epithelial Context of the Hair and Nail, and its Relevance for the Pachyonychia Congenita Phenotype Journal of Investigative Dermatology · 2000 · 88 citations
    23. Clinical and Molecular Diagnostic Criteria of Congenital Atrichia with Papular Lesions11This paper originally appeared in issue 117:1662–1665, 2001. Following publication the authors indicated that important corrections at page proof were not taken in. To ensure that the paper is published as intended, the editors have decided to reproduce the contents in full. Journal of Investigative Dermatology · 2002 · 69 citations
    24. Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot Human Genome Variation · 2026
    25. Novel missense mutation in the EDA gene in a family affected by oligodontia 2016 · 12 citations
    26. Cutaneous features of myotonic dystrophy types 1 and 2: Implication of premature aging and vitamin D homeostasis Neuromuscular Disorders · 2016 · 18 citations
    27. Epigenetic mechanism of Gtl2-miRNAs causes the primitive sheep characteristics found in purebred Merino sheep Cell & bioscience · 2023
    28. Genetic Variants and Lifestyle Factors in Androgenetic Alopecia Patients: A Case–Control Study of Single Nucleotide Polymorphisms and Their Contribution to Baldness Risk Nutrients · 2025
    29. The association between rs2476601 polymorphism in PTPN22 gene and risk of alopecia areata Medicine · 2019 · 9 citations
    30. 132 Genetics of Stress Hormone Concentrations in Hair of Healthy Nursery Pigs and Their Relationship with Back Test Responses 2023