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    Research 481–510 of 1000+

    1. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    2. Congenital atrichia with papular lesions Indian Journal of Paediatric Dermatology · 2014 · 8 citations
    3. Case report: NUDT15 polymorphism and severe azathioprine-induced myelosuppression in a young Chinese female with systematic lupus erythematosus: a case analysis and literature review Frontiers in Pharmacology · 2023 · 1 citations
    4. T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy 2022
    5. Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor Springer eBooks · 2016
    6. Metabolic disease with autoimmune phenomena: 2 cases of SLE-like disease in young children diagnosed with lysinuric protein intolerance Pediatric Rheumatology · 2008
    7. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    8. Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Turkish Journal Of Neurology · 2021 · 3 citations
    9. Analogs of human genetic skin disease in domesticated animals International journal of women’s dermatology · 2017 · 3 citations
    10. SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS Journal of the Endocrine Society · 2020
    11. Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation The Journal of Cell Biology · 2001 · 195 citations
    12. Genetic Ablation of the <i>CDP/Cux</i> Protein C Terminus Results in Hair Cycle Defects and Reduced Male Fertility Molecular and cellular biology · 2002 · 97 citations
    13. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    14. Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease Science · 2023 · 60 citations
    15. Generalized atrophic benign epidermolysis bullosa. PubMed · 1997 · 51 citations
    16. Do Changes in Chromosomes Cause Aging? Cell · 1996 · 50 citations
    17. Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty The Journal of Clinical Endocrinology & Metabolism · 2016 · 41 citations
    18. Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies Familial cancer · 2012 · 39 citations
    19. A temperature-sensitive <i>FERONIA</i> mutant allele that alters root hair growth PLANT PHYSIOLOGY · 2020 · 37 citations
    20. Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells Medical Sciences · 2017 · 37 citations
    21. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    22. Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes ˜The œAmerican journal of pathology · 2010 · 35 citations
    23. 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
    24. Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives Experimental Eye Research · 2019 · 10 citations
    25. Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan Genes · 2016 · 9 citations
    26. <i>NIPAL4</i> deletion identified in an American Bully with autosomal recessive congenital ichthyosis and response to topical therapy Veterinary medicine and science · 2019 · 7 citations
    27. Azathioprine‐induced severe myelosuppression accompanied by massive hair loss and painful oral ulcer in an autoimmune hepatitis patient with <i>NUDT15</i> minor variant: A case report Clinical Case Reports · 2021 · 3 citations
    28. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    29. Receptor tyrosine kinase Kit action in skin melanocytes: is it exclusively cell autonomous? Experimental Dermatology · 2015 · 1 citations
    30. LEKTI: Netherton Syndrome and Atopic Dermatitis InTech eBooks · 2013 · 1 citations