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RDA coupled with deep sequencing detects somatic SVA-retrotranspositions and mosaicism in the human brain
Published 2023-06-01Subjects: Get full text
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2
Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study
Published 2019-08-01Subjects: Get full text
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3
Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy
Published 2020-12-01Subjects: Get full text
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RAS pathway: The new frontier of brain mosaicism in epilepsy
Published 2023-05-01Subjects: Get full text
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5
Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer's disease brains
Published 2015-02-01Subjects: “…somatic mosaicism…”
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Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging
Published 2020-05-01Subjects: Get full text
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7
Mosaic loss of the Y chromosome and men's health
Published 2022-01-01Subjects: Get full text
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8
Generation of somatic de novo structural variation as a hallmark of cellular senescence in human lung fibroblasts
Published 2023-12-01Subjects: Get full text
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Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia
Published 2023-03-01Subjects: Get full text
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Somatic mosaicism and structural variability of GBP3 gene in atherosclerosis
Published 2019-12-01Subjects: Get full text
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13
Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique
Published 2019-10-01Subjects: Get full text
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14
Editorial: Somatic genomic mosaicism & human disease
Published 2022-10-01Subjects: “…somatic mosaicism…”
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Paradoxical delay in the onset of disease caused by super-long CAG repeat expansions in R6/2 mice
Published 2009-03-01Subjects: “…Somatic mosaicism…”
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17
Cancer as a result of genetic mosaicism
Published 2017-07-01Subjects: “…somatic mosaicism…”
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18
Elucidation of the Pathogenesis of Autoinflammatory Diseases Using iPS Cells
Published 2021-02-01Subjects: Get full text
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19
Segmental neurofibromatosis: A report of a rare case
Published 2020-01-01Subjects: Get full text
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Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism
Published 2017-12-01Subjects: “…Somatic mosaicism…”
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