Items where Author is "Matsumoto, N."

Article

(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 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

(2017) Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies. Scientific Reports. ISSN 2045-2322

(2016) A novel homozygous mutation in HSF4 causing autosomal recessive congenital cataract. Journal of Human Genetics. pp. 177-179. ISSN 1434-5161

(2015) Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome. Human genome variation. p. 15034. ISSN 2054-345X (Print) 2054-345X (Linking)