Items where Author is "Takata, A."
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(2021) NovelEXOSC9variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. Journal of Human Genetics. pp. 401-407. ISSN 1434-5161
(2021) The identification of two pathogenic variants in a family with mild and severe forms of developmental delay. Journal of Human Genetics. pp. 445-448. ISSN 1434-5161
(2018) A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features. Journal of Human Genetics. pp. 487-491. ISSN 1434-5161