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    Research 31–60 of 1000+

    1. Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia The New England Journal of Medicine · 2019 · 95 citations
    2. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype PLOS genetics · 2019 · 24 citations
    3. Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14 Frontiers in Medicine · 2026
    4. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    5. Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption American Journal of Case Reports · 2025
    6. Genetic Variants and Protective Immunity against SARS-CoV-2 Genes · 2022 · 5 citations
    7. Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant Genes · 2025
    8. Transient CD44 Variant Isoform Expression and Reduction in CD4+/CD25+ Regulatory T Cells in C3H/HeJ Mice with Alopecia Areata Journal of Investigative Dermatology · 2002 · 77 citations
    9. Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis BMC Medical Genomics · 2021 · 47 citations
    10. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 2022 · 8 citations
    11. 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
    12. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026
    13. Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia Journal of Investigative Dermatology · 2025
    14. Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review Human Genomics · 2025
    15. Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review Frontiers in endocrinology · 2024
    16. Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss Nature Communications · 2023
    17. The Rotterdam Study: 2016 objectives and design update European Journal of Epidemiology · 2015 · 336 citations
    18. Androgen Signaling Regulates SARS-CoV-2 Receptor Levels and Is Associated with Severe COVID-19 Symptoms in Men Cell Stem Cell · 2020 · 139 citations
    19. Ovine KRT81 Variants and Their Influence on Selected Wool Traits of Commercial Value Genes · 2024 · 4 citations
    20. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    21. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    22. A locus on distal chromosome 10 (ahl4) affecting age-related hearing loss in A/J mice Neurobiology of aging · 2008 · 62 citations
    23. Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis American journal of human genetics · 2019 · 53 citations
    24. Autosomal recessive monilethrix: Novel variants of the <i>DSG4</i> gene in three Chinese families Molecular genetics & genomic medicine · 2022 · 5 citations
    25. 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
    26. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    27. Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed Schweizer Archiv für Tierheilkunde · 2020 · 2 citations
    28. Structural and epistatic regulatory variants cause hallmark white spotting in cattle Science Advances · 2025 · 1 citations
    29. Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family Frontiers in genetics · 2021 · 1 citations
    30. Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82 Nature communications · 2022 · 9 citations