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    Research 61–90 of 1000+

    1. Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis Acta Dermato Venereologica · 1987 · 8 citations
    2. More about X‐linked testicular feminization of the mouse as a noninducible (i<sup>s</sup>) mutation of a regulatory locus: 5α‐androstan‐3α‐17ß‐diol as the true inducer of kidney alcohol dehydrogenase and ß‐glucuronidase Clinical genetics · 1971 · 38 citations
    3. 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
    4. Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations International Journal of Dermatology · 2004 · 12 citations
    5. A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family BMC Pregnancy and Childbirth · 2025
    6. INVESTIGATIONS INTO THE ROLE OF THE X-LINKED EPIGENETIC REGULATOR UTX (KDM6A) IN SELF-RENEWING STRATIFYING EPITHELIA Scholarly Commons (University of Pennsylvania) · 2025
    7. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    8. Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition Endocrine Reviews · 2005 · 451 citations
    9. Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene The Journal of Clinical Endocrinology & Metabolism · 2003 · 174 citations
    10. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    11. Protoporphyrin IX: the Good, the Bad, and the Ugly Journal of Pharmacology and Experimental Therapeutics · 2015 · 138 citations
    12. Caspase-3 Regulates YAP-Dependent Cell Proliferation and Organ Size Molecular Cell · 2018 · 90 citations
    13. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    14. A Mutation of the Androgen Receptor Associated with Partial Androgen Resistance, Familial Gynecomastia, and Fertility* The Journal of Clinical Endocrinology & Metabolism · 1988 · 67 citations
    15. Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. Journal of medical genetics · 1992 · 41 citations
    16. Ectodermal Dysplasia: Otolaryngologic Manifestations and Management ˜The œLaryngoscope · 2002 · 37 citations
    17. Roles of steroid sulfatase in brain and other tissues Physiological Research · 2008 · 22 citations
    18. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    19. XEDAR activates the non-canonical NF-κB pathway Biochemical and Biophysical Research Communications · 2015 · 18 citations
    20. Keratosis follicularis spinulosa decalvans in a female Indian journal of dermatology, venereology, and leprology · 2011 · 17 citations
    21. Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies International reviews of immunology · 2015 · 9 citations
    22. Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This? Pediatric dermatology · 2005 · 5 citations
    23. Genetic correlation analysis does not associate male pattern baldness with COVID-19 Journal of The American Academy of Dermatology · 2021 · 4 citations
    24. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    25. Familial congenital generalized hypertrichosis Indian journal of dermatology, venereology, and leprology · 2013 · 1 citations
    26. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    27. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
    28. Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes 2011
    29. Postgraduate seminar in pediatric dermatology Journal of The American Academy of Dermatology · 1982
    30. Disorders of Keratinization 2014