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    Research 961–990 of 1000+

    1. Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome Frontiers in endocrinology · 2020 · 29 citations
    2. Dermatopathia Pigmentosa Reticularis: Report of a New Cases and Literature Review Indian Journal of Dermatology · 2016 · 13 citations
    3. <i>egfl6</i> expression in the pharyngeal pouch is dispensable for craniofacial development Animal Cells and Systems · 2021 · 2 citations
    4. Syndrome of Birt–Hogg–Dubé, a Histopathological Pitfall With Similarities to Tuberous Sclerosis 2013 · 12 citations
    5. Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency 2022
    6. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    7. Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome Journal of Pediatric Gastroenterology and Nutrition · 2011 · 44 citations
    8. Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome American Journal of Medical Genetics Part A · 2020 · 11 citations
    9. Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1 Journal of clinical immunology · 2023 · 2 citations
    10. Variant <i>PADI3</i> in Central Centrifugal Cicatricial Alopecia The New England Journal of Medicine · 2019 · 95 citations
    11. 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
    12. When whorls collide: the development of hair patterns in frizzled 6 mutant mice Development · 2010 · 55 citations
    13. 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
    14. Meibomian gland changes in the rhino (hrrhhrrh) mouse. PubMed · 1988 · 48 citations
    15. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    16. Pilomatricoma in the infraorbital region Clinical Case Reports · 2024
    17. Pulmonary manifestations of Birt-Hogg-Dubé syndrome Familial cancer · 2013 · 99 citations
    18. Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2014 · 87 citations
    19. Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty The Journal of Clinical Endocrinology & Metabolism · 2016 · 41 citations
    20. 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
    21. Non-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease Endocrine Related Cancer · 2019 · 25 citations
    22. Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin? Experimental Dermatology · 2009 · 18 citations
    23. The Roles of Keratinocytes in the Initiation, Progression and Maintenance of Hidradenitis Suppurativa Experimental Dermatology · 2026
    24. Editorial: Mechanisms and novel treatments of pigmentary disorders and skin regeneration Frontiers in Medicine · 2022
    25. Congenital Adrenal Hyperplasia IntechOpen eBooks · 2022
    26. Structural basis for the catalysis and inhibition of human steroid 5α‐reductase 2 The FASEB Journal · 2021
    27. The color of human hair 2011
    28. In This Issue Journal of Clinical Investigation · 2011
    29. Loose anagen syndrome in one identical twin girl. PubMed · 2021
    30. Nucleocytoplasmic Communication in Progeria Libra · 2014