Toshiyuki Yamamoto
0000-0002-9484-3505
11 papers found
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Congenital anemia reveals distinct targeting mechanisms for master transcription factor GATA1
Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia
Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome: Novel SLC16A2 mutation
A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects: 10q21.3q22.2 microdeletion
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria
Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations
Comment on “Delayed myelination is not a constant feature of Allan–Herndon–Dudley syndrome: Report of a new case and review of the literature” by Azzolini S et al. Brain & Development 2014;36:716–720
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease
Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients
Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications
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