Miyake Noriko | Department Of Biochemistry And Molecular Biology And Division Of Gene Therapy Research Center For Ad

スポンサーリンク

概要

関連著者

もっと見る

著作論文

PE-529 Efficient Correction of Cardiac Abnormalities in Fabry Mice by AAV Type 8 Mediated Systemic Gene Transfer(PE089,Cardiomyopathy/Hypertrophy (Basic) (M),Poster Session (English),The 73rd Annual Scientific Meeting of the Japanese Circulation Society)
Phenotype-genotype correlation in two patients with 12q proximal deletion
Measurement of Cystatin C in Cerebrospinal Fluid
Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization
The Effect of Growth Hormone Therapy on Low-Density Lipoprotein Particle Size
Successful combination therapy with vancomycin and arbekacin against infective endocarditis caused by MRSA
The Level of Orally Ingested Vitamin C Affected the Expression of Vitamin C Transporters and Vitamin C Accumulation in the Livers of ODS Rats
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
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia
A Novel SACS Mutation in an Atypical Case with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
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
Vigorous cleaning and adequate ventilation are necessary to control an outbreak in a neonatal intensive care unit
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
Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia

もっと見る

スポンサーリンク