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    Research 811–840 of 1000+

    1. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
    2. A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2004 · 44 citations
    3. Conversion of the Nipple to Hair-Bearing Epithelia by Lowering Bone Morphogenetic Protein Pathway Activity at the Dermal-Epidermal Interface ˜The œAmerican journal of pathology · 2008 · 41 citations
    4. HSD3B1 Genotypes Conferring Adrenal-Restrictive and Adrenal-Permissive Phenotypes in Prostate Cancer and Beyond Endocrinology · 2019 · 30 citations
    5. The ITGB6 gene: its role in experimental and clinical biology Gene · 2019 · 28 citations
    6. Genetically separable determinants of hair keratin gene expression Developmental Dynamics · 2000 · 27 citations
    7. A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome Fertility and Sterility · 2000 · 20 citations
    8. Adam10 haploinsufficiency causes freckle-like macules in Hairless mice Pigment Cell & Melanoma Research · 2012 · 13 citations
    9. Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development Frontiers in Cell and Developmental Biology · 2020 · 12 citations
    10. Association of Gly972Arg variant of insulin receptor subtrate-1 and Gly1057Asp variant of insulin receptor subtrate-2 with polycystic ovary syndrome in the Chinese population Journal of Ovarian Research · 2014 · 10 citations
    11. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome Case reports in genetics · 2015 · 7 citations
    12. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study Arquivos Brasileiros de Oftalmologia · 2017 · 5 citations
    13. Focal palmoplantar callosities in non-Herlitz junctional epidermolysis bullosa Journal of the American Academy of Dermatology · 2005 · 5 citations
    14. [Hirsutism and hypertrichosis in adults: investigations and treatment]. PubMed · 2002 · 3 citations
    15. Cardiac biopsy in myocarditis The Lancet · 1990 · 2 citations
    16. Investigation of the association of the MLPH gene with seasonal canine flank alopecia in Rhodesian Ridgeback dogs Canine Medicine and Genetics · 2024 · 1 citations
    17. Spreading of Isolated Ptch Mutant Basal Cell Carcinoma Precursors Is Physiologically Suppressed and Counteracts Tumor Formation in Mice International journal of molecular sciences · 2020 · 1 citations
    18. Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia DOAJ (DOAJ: Directory of Open Access Journals) · 2011 · 1 citations
    19. [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis]. PubMed · 2007 · 1 citations
    20. Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx OPAL (Open@LaTrobe) (La Trobe University) · 2025
    21. Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx OPAL (Open@LaTrobe) (La Trobe University) · 2025
    22. Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype 2025
    23. INVESTIGATIONS INTO THE ROLE OF THE X-LINKED EPIGENETIC REGULATOR UTX (KDM6A) IN SELF-RENEWING STRATIFYING EPITHELIA Scholarly Commons (University of Pennsylvania) · 2025
    24. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    25. CRISPR/Cas9-mediated Generation of<i>COL7A1</i>-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa bioRxiv (Cold Spring Harbor Laboratory) · 2023
    26. Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay Pesquisa Veterinária Brasileira · 2023
    27. 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis 2022
    28. S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis The American Journal of Gastroenterology · 2020
    29. 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath 2019
    30. 921 Generation of a new rodent model of scleroderma Journal of Investigative Dermatology · 2019