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    Research 211–240 of 1000+

    1. Deletion of an enhancer in FGF5 is associated with ectopic expression in goat hair follicles and the cashmere growth phenotype Research Square (Research Square) · 2020
    2. Genetic and hormonal influence on SARS-CoV-2-infection susceptibility Annals of Oncology · 2020 · 2 citations
    3. A novel <i>MBTPS2</i> variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response American Journal of Medical Genetics Part A · 2021 · 5 citations
    4. Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion Journal of Clinical Medicine · 2021 · 4 citations
    5. Polymorphism of keratin-associated protein (KAP) 7 gene and its association with wool traits in Rambouillet sheep The Indian Journal of Animal Sciences · 2018 · 3 citations
    6. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    7. 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation Journal of Investigative Dermatology · 2022
    8. The L412F variant of Toll-like receptor 3 (TLR3) is associated with cutaneous candidiasis, increased susceptibility to cytomegalovirus, and autoimmunity Journal of Allergy and Clinical Immunology · 2010 · 55 citations
    9. GRHL3 binding and enhancers rearrange as epidermal keratinocytes transition between functional states PLOS Genetics · 2017 · 38 citations
    10. Genetic Variants and Protective Immunity against SARS-CoV-2 Genes · 2022 · 5 citations
    11. Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women-Part II: Association of PubMed · 2025
    12. Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity Journal of Rare Diseases · 2024
    13. BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations British Journal of Dermatology · 2021
    14. Male-pattern baldness susceptibility locus at 20p11 Nature Genetics · 2008 · 111 citations
    15. Cantú syndrome with coexisting familial pituitary adenoma Endocrine · 2018 · 14 citations
    16. CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy Cureus · 2026
    17. LBODP010 A Case of Glucocorticoid Resistance Syndrome Journal of the Endocrine Society · 2022
    18. Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy Journal of Pediatric Gastroenterology and Nutrition · 2009 · 26 citations
    19. Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia The New England Journal of Medicine · 2019 · 95 citations
    20. Molecular Basis of Hereditary Hair Diseases The Keio Journal of Medicine · 2023
    21. 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
    22. Identification and sequence analysis of the keratin-associated protein 24‐1 (KAP24-1) gene homologue in sheep Gene · 2012 · 51 citations
    23. Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience Frontiers in Oncology · 2023 · 1 citations
    24. Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants Frontiers in Genetics · 2023 · 1 citations
    25. IRF2BP2 genes provide new insights into coat type and fiber composition variation in sheep Small Ruminant Research · 2026
    26. 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2024
    27. Identifying critical cell types and gene regulatory pathways for hair and skin disease Nature Genetics · 2023
    28. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    29. Lack of concordance and linkage disequilibrium among brothers for androgenetic alopecia and CAG/GGC haplotypes of the androgen receptor gene in Mexican families Journal of Cosmetic Dermatology · 2015 · 2 citations
    30. Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease Skin appendage disorders · 2018 · 2 citations