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    Research 211–240 of 438

    1. FOXN1 deficient nude severe combined immunodeficiency Orphanet journal of rare diseases · 2017 · 32 citations
    2. Genetic Disorders and Defects in Vitamin D Action Endocrinology and metabolism clinics of North America · 2010 · 151 citations
    3. Pulmonary manifestations of Birt-Hogg-Dubé syndrome Familial cancer · 2013 · 99 citations
    4. Myotonic Dystrophy—A Progeroid Disease? Frontiers in Neurology · 2018 · 41 citations
    5. Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin? Experimental Dermatology · 2009 · 18 citations
    6. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    7. Atrichia with papular lesions International journal of trichology · 2011 · 8 citations
    8. Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development Asian Journal of Andrology · 2024 · 2 citations
    9. Ruxolitinib Rescues Multiorgan Clinical Autoimmunity in Patients with APS-1 Journal of clinical immunology · 2023 · 2 citations
    10. Congenital Adrenal Hyperplasia IntechOpen eBooks · 2022
    11. Decision letter: Crosstalk with keratinocytes causes GNAQ oncogene specificity in melanoma 2021
    12. How the leopard gets its spots: a transmembrane peptidase specifies feline pigmentation patterns Pigment Cell & Melanoma Research · 2013
    13. Pleiotropic Role of Notch Signaling in Human Skin Diseases International Journal of Molecular Sciences · 2020 · 29 citations
    14. A Ca <sup>2+</sup> /calmodulin-dependent protein kinase required for symbiotic nodule development: Gene identification by transcript-based cloning Proceedings of the National Academy of Sciences · 2004 · 477 citations
    15. Generalized atrophic benign epidermolysis bullosa. PubMed · 1997 · 51 citations
    16. Birt–Hogg–Dubé syndrome: from gene discovery to molecularly targeted therapies Familial cancer · 2012 · 39 citations
    17. Melanoma: Genetic Abnormalities, Tumor Progression, Clonal Evolution and Tumor Initiating Cells Medical Sciences · 2017 · 37 citations
    18. Hairless Plays a Role in Formation of Inner Root Sheath via Regulation of Dlx3 Gene 2012 · 17 citations
    19. KLHL24-Mediated Hair Follicle Stem Cells Structural Disruption Causes Alopecia 2022 · 4 citations
    20. Reply Journal of Investigative Dermatology · 2000 · 2 citations
    21. EBS in Children with De Novo Pathogenic Variants Disturbing Krt14 International journal of molecular sciences · 2024
    22. Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Turkish Journal Of Neurology · 2021 · 3 citations
    23. Identification and characterization of genes for skin and hair disorders bonndoc (University of Bonn) · 2026
    24. Drug Repurposing Patent Applications April–June 2021 Assay and drug development technologies · 2021
    25. Genetic Hair Disorders: A Review Dermatology and Therapy · 2019 · 26 citations
    26. Converging physiological roles of the anthrax toxin receptors F1000Research · 2019 · 15 citations
    27. Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis Dermatology and Therapy · 2024 · 3 citations
    28. Treatment of hypotrichosis simplex of the scalp with the combination of botanic extracts and minoxidil: a case report Frontiers in Genetics · 2025
    29. WNT Signaling in Disease Cells · 2019 · 144 citations
    30. Biotinidase Deficiency: Prevalence, Impact And Management Strategies. PubMed · 2020 · 89 citations