Yoshinori Tsurusaki
Sagami Women's University
141 papers found
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Pathogenic variants of DYNC2H1, KIAA0556, and PTPN11 associated with hypothalamic hamartoma
UploadHomozygous splicing mutation in NUP13 3 causes Galloway-Mowat syndrome
UploadNonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
Download from doi.orgNovel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
Download from doi.orgDe novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy
UploadRefining the clinical phenotype of Okur–Chung neurodevelopmental syndrome
Download from www.nature.comCerebellar ataxia-dominant phenotype in patients with ERCC4 mutations
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