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    Research 991–1000 of 1000+

    1. DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma Frontiers in Cardiovascular Medicine · 2023 · 1 citations
    2. Unusual symptoms of iron deficiency anemia (2 clinical observations) Pediatrician (St Petersburg) · 2023 · 1 citations
    3. Efficacy and safety of glucocorticoids in the treatment of progressive muscular dystrophy in children: a systematic review and meta-analysis Translational pediatrics · 2021 · 1 citations
    4. Co-occurrence of monilethrix and Type 1 diabetes mellitus Indian dermatology online journal · 2018 · 1 citations
    5. Ultra‐structural hair alterations in Friedreich's ataxia: A scanning electron microscopic investigation Microscopy Research and Technique · 2015 · 1 citations
    6. Erythromelanosis Follicularis Faciei: First Case Report from Saudi Arabia 2003 · 1 citations
    7. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    8. <i>GJB6</i> missense variant in a Labrador Retriever with paw pad hyperkeratosis Animal Genetics · 2026
    9. Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother American Journal of Medical Genetics Part A · 2026
    10. APECED: JAK Inhibition in an Adult Case with Long-Term Follow-up Journal of Human Immunity · 2025