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    1. Minoxidil restores thymic growth in 22q11.2 deletion syndrome by limiting Sox9+ chondrocyte expansion Journal of Human Immunity · 2025 · 1 citations
    2. Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome Journal of Clinical Investigation · 2022 · 9 citations
    3. Omenn syndrome in a 10-month-old male with athymia and VACTERL association Journal of allergy and clinical Immunology. Global · 2023
    4. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes European Journal of Human Genetics · 2019 · 36 citations
    5. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    6. What does acne genetics teach us about disease pathogenesis? British Journal of Dermatology · 2019 · 29 citations
    7. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    8. Food and medicine homology: a potential nutritional intervention strategy for post-acute COVID-19 syndrome Frontiers in Pharmacology · 2025 · 1 citations
    9. Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome British Journal of Dermatology · 2021 · 11 citations
    10. Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023) American Journal of Medical Genetics Part A · 2024 · 21 citations
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