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List of works by Ikumi Hori

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

scientific article

A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever

scientific article published on 21 October 2017

A novel CUL4B splice site variant in a young male exhibiting less pronounced features

scientific article published on 04 September 2019

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate

scientific article

A novel splicing mutation in in a boy with Christianson syndrome

scientific article published on 25 March 2019

Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum

scientific article published on 8 September 2017

CTCFdeletion syndrome: clinical features and epigenetic delineation

scientific article published on 28 August 2017

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

scientific article

Delayed recognition of childhood arterial ischemic stroke

scientific article published on 01 September 2019

Diffuse alveolar hemorrhage secondary to ANCA-associated vasculitis in a patient with Down syndrome

scientific article published in April 2015

Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism

scientific article published on 15 September 2017

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome

article

Truncating mutation in NFIA causes brain malformation and urinary tract defects

scientific article published on 26 February 2015

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