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    Research 181–210 of 1000+

    1. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010 · 151 citations
    2. Analogs of human genetic skin disease in domesticated animals International journal of women’s dermatology · 2017 · 3 citations
    3. Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts Cells · 2025
    4. Mechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2011 · 5 citations
    5. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility 2009 · 189 citations
    6. Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia ˜The œAmerican journal of pathology · 2000 · 179 citations
    7. An unusual presentation of vitamin D dependent rickets type 2 with low 25 (OH) D3 levels and alopecia: a case report of two siblings International Journal of Contemporary Pediatrics · 2022
    8. In Silico Promoter Motif Analysis of Human Fertility-Related Genes Applied Biosciences · 2026
    9. UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation Journal of Investigative Dermatology · 2021 · 10 citations
    10. Hair follicle associated pluripotent (HAP) stem cells jump from transplanted whiskers to pelage follicles and stimulate hair growth Scientific Reports · 2022
    11. Acne Syndromes and Mosaicism Biomedicines · 2021 · 1 citations
    12. Sebaceous gland diseases: clinical picture risk factors and treatment International Journal of Community Medicine and Public Health · 2023
    13. Advances in clinical applications of microneedle Frontiers in Pharmacology · 2025 · 9 citations
    14. Application of multi-omics techniques to androgenetic alopecia: Current status and perspectives Computational and Structural Biotechnology Journal · 2024
    15. Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia Pediatria i Medycyna Rodzinna · 2025 · 1 citations
    16. A homozygous missense variant in type I keratin <i>KRT25</i> causes autosomal recessive woolly hair Journal of Medical Genetics · 2015 · 29 citations
    17. Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes ˜The œAmerican journal of pathology · 2010 · 35 citations
    18. The disruption of Sox21-mediated hair shaft cuticle differentiation causes cyclic alopecia in mice Proceedings of the National Academy of Sciences · 2009 · 73 citations
    19. Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction International Journal of Molecular Sciences · 2015 · 16 citations
    20. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    21. Genome Wide Differential Expression Profiles in Nevus Sebaceous Uncovered Low Expression of CDKN2AIP and Construction of a ceRNA Network Clinical Cosmetic and Investigational Dermatology · 2022
    22. The Role of Histone Demethylases in Disease Springer eBooks · 2011 · 1 citations
    23. Adrenal causes of endocrine hypertension in childhood or adolescence Journal of Endocrinological Investigation · 2025
    24. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    25. 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
    26. Genetics of Alopecia Encyclopedia of Life Sciences · 2012
    27. Pulmonary manifestations of Birt-Hogg-Dubé syndrome Familial cancer · 2013 · 99 citations
    28. Large-Scale, Multicenter, Prospective Registry Study of Ripretinib in Advanced GIST: A Real-World Study from China Advances in therapy · 2023 · 1 citations
    29. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    30. A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency Hair transplant forum international · 2013 · 1 citations