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    Research 481–510 of 1000+

    1. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    2. A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia 2020 · 2 citations
    3. Netherton syndrome: effect on ichthyosis linearis circumflexa with dupilumab Journal of Dermatological Treatment · 2025 · 1 citations
    4. Exploring the efficacy of testosterone undecanoate in male children with 5α‐reductase deficiency Pediatric investigation · 2021 · 5 citations
    5. Short-term Efficacy of Tofacitinib, a JAK Inhibitor, in IFIH1-related Aicardi-Goutières Syndrome European Journal of Medical Genetics · 2025
    6. Pulmonary manifestations of Birt-Hogg-Dubé syndrome Familial cancer · 2013 · 99 citations
    7. Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA eLife · 2019 · 49 citations
    8. Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease Frontiers in immunology · 2020 · 41 citations
    9. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    10. Epidermal mammalian target of rapamycin complex 2 controls lipid synthesis and filaggrin processing in epidermal barrier formation Journal of Allergy and Clinical Immunology · 2019 · 34 citations
    11. Nuclear Localization of STAT5A Modified with O-Linked N-Acetylglucosamine and Early Involution in the Mammary Gland of Hirosaki Hairless Rat Journal of Biological Chemistry · 2005 · 17 citations
    12. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome ˜The œAmerican journal of case reports · 2018 · 14 citations
    13. An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature 2018 · 10 citations
    14. Evaluation of noninvasive biospecimens for transcriptome studies BMC Genomics · 2023 · 9 citations
    15. Hidradenitis suppurativa and Mediterranean fever gene mutations JAAD Case Reports · 2019 · 7 citations
    16. Overexpression of hepatoma-derived growth factor in melanocytes does not lead to oncogenic transformation BMC Cancer · 2011 · 7 citations
    17. Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa 2022 · 5 citations
    18. Episodic Bilateral Corneal Edema Caused by Hair Groom Gel American Journal of Ophthalmology · 1992 · 4 citations
    19. PNKP is required for maintaining the integrity of progenitor cell populations in adult mice Life science alliance · 2021 · 3 citations
    20. Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss Cureus · 2025
    21. 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
    22. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    23. Omenn syndrome in a 10-month-old male with athymia and VACTERL association Journal of allergy and clinical Immunology. Global · 2023
    24. Altered hair root gene expression profiles highlight calcium signaling and lipid metabolism pathways to be associated with curly hair initiation and maintenance in Mangalitza pigs Frontiers in Genetics · 2023
    25. 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR Journal of Investigative Dermatology · 2016
    26. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation Hormones · 2016
    27. How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns Pigment Cell & Melanoma Research · 2013
    28. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene <i>LIPH</i> Science · 2006 · 194 citations
    29. Generalized atrophic benign epidermolysis bullosa. PubMed · 1997 · 51 citations
    30. Canonical prolactin signaling and global mRNA expression in the skin of Holstein heifers carrying the SLICK1 allele of the prolactin receptor gene Journal of Dairy Science · 2025 · 1 citations