Items where Author is "Sekiguchi, F."
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Number of items: 3.
(2021) NovelEXOSC9variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy. Journal of Human Genetics. pp. 401-407. ISSN 1434-5161
(2018) A homozygous NOP14 variant is likely to cause recurrent pregnancy loss. Journal of Human Genetics. pp. 425-430. 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