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    Research 481–510 of 1000+

    1. Woolly hair generalizado: caso clínico e revisão da literatura Journal Archives of Health · 2024
    2. P62 Pre-clinical pharmacological and skin penetration profile of LDE255, a novel and specific Smoothened antagonist Melanoma research · 2010
    3. Werewolf, there wolf: variants in <i>Hairless</i> associated with hypotrichia and roaning in the lykoi cat breed bioRxiv (Cold Spring Harbor Laboratory) · 2020 · 3 citations
    4. Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2 Frontiers in immunology · 2019 · 98 citations
    5. Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis 2006 · 74 citations
    6. Delayed epidermal permeability barrier formation and hair follicle aberrations in Inv-Cldn6 mice Mechanisms of development · 2005 · 63 citations
    7. Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation Biochemical Journal · 2019 · 15 citations
    8. Disorganization of Transcriptional Regulation and Alteration of Keratin Family Gene Expression in Hairy Ear Mice MDPI (MDPI AG) · 2026
    9. A novel mutation in the connexin 26 gene (<i>GJB2</i>) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome Clinical and Experimental Dermatology · 2010 · 34 citations
    10. Atrichia with papular lesions resulting from mutations in the rhesus macaque (<i>Macaca mulatta</i>) <i>hairless</i> gene Laboratory Animals · 2002 · 20 citations
    11. Effect of Platelet-Rich Plasma (PRP) on Dermal Skin Flap Survival: An Experimental Study in Rats Cureus · 2026
    12. The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant Gene · 2014 · 11 citations
    13. A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix 生物医学研究杂志:英文版 · 2011 · 3 citations
    14. Hemoglobinopathy and Systemic Lupus: A Rare Association Open Journal of Internal Medicine · 2019 · 1 citations
    15. Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess Fertility and Sterility · 2005 · 40 citations
    16. Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study Frontiers in Medicine · 2026
    17. SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets Journal of the Endocrine Society · 2024
    18. Multiple facial atrophic scars in childhood Pediatric Dermatology · 2024
    19. A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report Pediatric rheumatology online journal · 2024
    20. Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression Experimental Dermatology · 1998 · 26 citations
    21. A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by<i>DSP</i>mutations Clinical and experimental dermatology · 2013 · 11 citations
    22. The efficacy and safety of valproic acid medications with controlled active ingredient release in adults in real clinical practice from the position of pharmacokinetic and pharmacogenetic approaches Nevrologiâ, nejropsihiatriâ, psihosomatika · 2017 · 5 citations
    23. Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: a Case Report Serbian Journal of Dermatology and Venerology · 2016 · 2 citations
    24. Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel‐like factor 1 (KLF‐1)‐E325K‐associated congenital dyserythropoietic anaemia (CDA‐IV) British Journal of Haematology · 2026
    25. Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa Journal of Clinical Investigation · 2017 · 87 citations
    26. Insertional mutation of the hairless locus on mouse Chromosome 14 Mammalian Genome · 1993 · 19 citations
    27. SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION 2019
    28. A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT Pediatric Research · 1974
    29. Successful use of topical minoxidil in the treatment of hypotrichosis associated with desmoplakin mutations Pediatric dermatology · 2019 · 1 citations
    30. [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix]. PubMed · 2008 · 2 citations