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    Research 30 of 82

    1. Discovery of Four New<em> FGF5</em> Variants Causing Long Hair in the Dog Preprints.org · 2026
    2. Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis Bioinformation · 2012 · 3 citations
    3. Three-dimensional model of normal human dermal tissue using serial tissue sections Frontiers in Bioengineering and Biotechnology · 2024 · 5 citations
    4. Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia Scientific Reports · 2017 · 20 citations
    5. Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria PLOS Genetics · 2018 · 308 citations
    6. Analysis of the FGF gene family provides insights into aquatic adaptation in cetaceans Scientific reports · 2017 · 20 citations
    7. Integration Analysis of Hair Follicle Transcriptome and Proteome Reveals the Mechanisms Regulating Wool Fiber Diameter in Angora Rabbits International journal of molecular sciences · 2024
    8. Exome analysis for Cronkhite-Canada syndrome: A case report World Journal of Clinical Cases · 2022 · 2 citations
    9. Skin image analysis for detection and quantitative assessment of dermatitis, vitiligo and alopecia areata lesions: a systematic literature review BMC Medical Informatics and Decision Making · 2025 · 5 citations
    10. Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature BMC pediatrics · 2020 · 11 citations
    11. In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis Pharmaceuticals · 2023
    12. What happens when simulations get real and cosmetic dermatology goes virtual? Journal of Cosmetic Dermatology · 2023
    13. Case report: Exploring autosomal recessive woolly hair: genetic and scanning electron microscopic perspectives on a Japanese patient Frontiers in medicine · 2024
    14. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    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. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes European Journal of Human Genetics · 2019 · 36 citations
    17. Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese PLoS ONE · 2015 · 10 citations
    18. FGF5 is a crucial regulator of hair length in humans Proceedings of the National Academy of Sciences of the United States of America · 2014 · 136 citations
    19. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome American journal of human genetics · 2016 · 119 citations
    20. Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome British Journal of Dermatology · 2021 · 11 citations
    21. A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family 2018 · 9 citations
    22. Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome Journal of pediatric & adolescent gynecology · 2019 · 1 citations
    23. Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma Frontiers in Oncology · 2024
    24. The oestrogen receptor 2 (<i>ESR2</i>) gene in female-pattern hair loss: replication of association with rs10137185 in German patients British Journal of Dermatology · 2013 · 4 citations
    25. The Most Influential Publications Regarding Hair Transplantation: A Bibliometric Review Aesthetic Plastic Surgery · 2024 · 2 citations
    26. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome Genes · 2019 · 20 citations
    27. The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria 2022 · 2 citations
    28. Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients Clinical Cosmetic and Investigational Dermatology · 2025
    29. Optimized polycystic ovarian disease prognosis and classification using AI based computational approaches on multi-modality data BMC Medical Informatics and Decision Making · 2024 · 19 citations
    30. 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