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Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings
Published 2025-01-01Subjects: Get full text
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Comprehensive Metabolomic Profiling in Adults with X-Linked Hypophosphatemia: A Case-Control Study
Published 2024-12-01Subjects: “…X-linked hypophosphatemia…”
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Optical coherence tomography angiography reveals abnormal retinal vascular density and perfusion in patients with X-linked adrenoleukodystrophy: a cross-sectional study
Published 2025-01-01Subjects: “…X-linked adrenoleukodystrophy…”
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5
Effects of selection and mutation on epidemiology of X-linked genetic diseases
Published 2017-05-01Subjects: Get full text
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Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination
Published 2025-01-01Subjects: Get full text
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Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan
Published 2024-05-01Subjects: “…transducin-beta-like protein 1 x-linked (tbl1x)…”
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