Yoshinori Tsurusaki
Sagami Women's University
143 papers found
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Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia
UploadPhenotypic Spectrum ofCOL4A1Mutations: Porencephaly to Schizencephaly
Download from www.researchgate.netThe diagnostic utility of exome sequencing in Joubert syndrome and related disorders
Download from www.nature.comCASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia
Download from onlinelibrary.wiley.comMutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Download from www.nature.comHomozygous c.l4576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease
UploadMissense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
Download from www.nature.comDe Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly
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