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    Research 61–90 of 1000+

    1. Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia American Journal of Human Genetics · 2007 · 109 citations
    2. 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
    3. X linked mental retardation. Journal of Medical Genetics · 1991 · 79 citations
    4. Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis Proceedings of the National Academy of Sciences of the United States of America · 2013 · 44 citations
    5. Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia American Journal of Medical Genetics · 2014 · 35 citations
    6. An X-Linked Gene Involved in Androgenetic Alopecia: A Lesson to Be Learned from Adrenoleukodystrophy Dermatology · 2000 · 24 citations
    7. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    8. Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis Dermatology · 2000 · 16 citations
    9. Characterization of X‐linked hypohidrotic ectodermal dysplasia (XL‐HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging American Journal of Medical Genetics - Part A · 2013 · 15 citations
    10. Absence of Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis? Dermatology · 1999 · 9 citations
    11. Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature European Journal of Pediatrics · 2012 · 7 citations
    12. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients BMC Medical Genetics · 2020 · 6 citations
    13. Male-Pattern Baldness Is Common in Men with X-Linked Recessive Ichthyosis Dermatology · 2003 · 6 citations
    14. Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening Journal of the American Academy of Dermatology · 2012 · 3 citations
    15. An unusual presentation of X-linked adrenoleukodystrophy Endocrinology, Diabetes & Metabolism Case Reports · 2015 · 2 citations
    16. Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn Cureus · 2023 · 1 citations
    17. Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome Pediatric Dermatology · 2023 · 1 citations
    18. Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother American Journal of Medical Genetics Part A · 2026
    19. X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab Acta Dermato Venereologica · 2026
    20. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    21. An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia Cureus · 2024
    22. Characterization of X-Linked SNP genotypic variation in globally distributed human populations GenomeBiology.com (London. Print) · 2010 · 31 citations
    23. Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis Acta Dermato Venereologica · 1987 · 8 citations
    24. 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
    25. 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
    26. 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
    27. A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family BMC Pregnancy and Childbirth · 2025
    28. INVESTIGATIONS INTO THE ROLE OF THE X-LINKED EPIGENETIC REGULATOR UTX (KDM6A) IN SELF-RENEWING STRATIFYING EPITHELIA Scholarly Commons (University of Pennsylvania) · 2025
    29. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    30. Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition Endocrine Reviews · 2005 · 451 citations