Search Results - "Saidin, Akzam"
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The draft genome of MD-2 pineapple using hybrid error correction of long reads
Published in DNA research (01-10-2016)“…The introduction of the elite pineapple variety, MD-2, has caused a significant market shift in the pineapple industry. Better productivity, overall increased…”
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Journal Article -
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Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
Published in Annals of neurology (01-01-2016)“…Objective Focal epilepsies are the most common form observed and have not generally been considered to be genetic in origin. Recently, we identified mutations…”
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Journal Article -
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A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features
Published in Genes (05-08-2024)“…Tubulinopathies are associated with malformations of cortical development but not Walker-Warburg Syndrome. Intensive monitoring of a Croatian infant presenting…”
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Journal Article