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    Research 511–540 of 1000+

    1. <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis Animal Genetics · 2026
    2. Does Vitamin D play a role on Msx1 homeoprotein expression involving an endogenous antisense mRNA?*1 2004
    3. Editorial: Mechanisms and novel treatments of pigmentary disorders and skin regeneration Frontiers in Medicine · 2022
    4. Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report American Journal of Case Reports · 2025
    5. Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing Molecular Genetics & Genomic Medicine · 2025
    6. P56 Azathioprine-induced alopecia totalis and knuckle hyperpigmentation in a child with uveitis: test before you leap! Rheumatology Advances in Practice · 2024
    7. The parathyroid hormone-related protein as a regulator of normal tissue functions Current Opinion in Endocrinology & Diabetes · 1994 · 4 citations
    8. Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening Journal of the American Academy of Dermatology · 2012 · 3 citations
    9. Clinical Snippets Journal of Investigative Dermatology · 2003 · 1 citations
    10. Do Changes in Chromosomes Cause Aging? Cell · 1996 · 50 citations
    11. 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
    12. 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
    13. Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation The Journal of Cell Biology · 2001 · 195 citations
    14. Arabidopsis CNGC14 Mediates Calcium Influx Required for Tip Growth in Root Hairs Molecular Plant · 2017 · 93 citations
    15. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    16. New clinico‐genetic classification of trichothiodystrophy American Journal of Medical Genetics Part A · 2009 · 68 citations
    17. Conserved γδ T cell selection by BTNL proteins limits progression of human inflammatory bowel disease Science · 2023 · 60 citations
    18. Generalized atrophic benign epidermolysis bullosa. PubMed · 1997 · 51 citations
    19. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    20. Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty The Journal of Clinical Endocrinology & Metabolism · 2016 · 41 citations
    21. Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies Familial cancer · 2012 · 39 citations
    22. Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells Medical Sciences · 2017 · 37 citations
    23. Gab1 and Mapk Signaling Are Essential in the Hair Cycle and Hair Follicle Stem Cell Quiescence Cell reports · 2015 · 36 citations
    24. Ichthyosis with confetti: clinics, molecular genetics and management Orphanet Journal of Rare Diseases · 2015 · 36 citations
    25. Keratinocyte-derived follistatin regulates epidermal homeostasis and wound repair Laboratory investigation · 2008 · 28 citations
    26. Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives Experimental Eye Research · 2019 · 10 citations
    27. Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Turkish Journal Of Neurology · 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. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    30. Congenital atrichia with papular lesions Indian Journal of Paediatric Dermatology · 2014 · 8 citations