Tsurusaki Yoshinori | Department Of Human Genetics Yokohama City University Graduate School Of Medicine

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著作論文

De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS
A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5
Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

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