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    Research 10 of 30

    1. Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features American Journal of Medical Genetics Part A · 2018 · 39 citations
    2. Gain‐of‐function variants in the <i>ODC1</i> gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities American Journal of Medical Genetics Part A · 2018 · 28 citations
    3. Biochemical features of primary cells from a pediatric patient with a gain-of-function <i>ODC1</i> genetic mutation Biochemical Journal · 2019 · 15 citations
    4. Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome American Journal of Medical Genetics Part A · 2021 · 11 citations
    5. Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2025 · 1 citations
    6. Bachmann–Bupp syndrome and treatment 2023
    7. Identification of differentially expressed genes in actinic keratosis samples treated with ingenol mebutate gel PLOS ONE · 2020 · 4 citations
    8. Development and homeostasis of the sebaceous gland Seminars in Cell & Developmental Biology · 2012 · 107 citations
    9. Polyamines and hair: a couple in search of perfection Experimental Dermatology · 2010 · 30 citations
    10. Androgenic Alopecia: Cross-Talk Between Cell Signal Transduction Pathways InTech eBooks · 2017 · 1 citations
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