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    Research 991–1000 of 1000+

    1. Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings 1995 · 124 citations
    2. Lamellar ichthyosis, dwarfism, mental retardation, and hair shaft abnormalities Journal of the American Academy of Dermatology · 1980 · 61 citations
    3. Hair Bundle Defects and Loss of Function in the Vestibular End Organs of Mice Lacking the Receptor-Like Inositol Lipid Phosphatase PTPRQ 2012 · 44 citations
    4. Effectiveness of Anastrozole and Cyproterone Acetate in Two Brothers with Familial Male Precocious Puberty Journal of Pediatric Endocrinology and Metabolism · 2008 · 21 citations
    5. Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia Journal of dermatology · 2000 · 17 citations
    6. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis 2020 · 8 citations
    7. Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion Journal of Clinical Medicine · 2021 · 4 citations
    8. “Structural imprinting” of the cutaneous immune effector function Tissue Barriers · 2020 · 4 citations
    9. Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Turkish Journal Of Neurology · 2021 · 3 citations
    10. PNKP is required for maintaining the integrity of progenitor cell populations in adult mice Life science alliance · 2021 · 3 citations