スポンサーリンク
Department Of Pediatrics Yamagata University School Of Medicine | 論文
- Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia
- Trisomy 1 in a case of a missed abortion
- A Case of Glycogen Storage Disease Type III (Glycogen Debranching Enzyme Deficiency) with Liver Cirrhosis and Hypertrophic Cardiomyopathy
- Evaluation of Shutdown Gamma-ray Dose Rates around the Duct Penetration by Three-Dimensional Monte Carlo Decay Gamma-ray Transport Calculation with Variance Reduction Method
- Physical and Catalytic Properties of MgO Prepared Using Citric Acid
- Quality assessment of umbilical cord blood units at the time of transplantation
- Vincristine-resistant Kasabach-Merritt phenomenon successfully treated with low-dose radiotherapy
- A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1
- Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome
- Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan
- A genome-wide association study identifies RNF213 as the first Moyamoya disease gene
- An Elderly Japanese Patient with Adult-onset Type II Citrullinemia with a Novel D493G Mutation in the SLC25A13 Gene
- Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease : nonsense mutation probably causes a recessive phenotype
- An Outbreak of Exanthematous Disease due to Coxsackievirus A9 in a Nursery in Yamagata, Japan, from February to March 2012
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
- Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome : rs17884724:A>C is associated with 7-alanine expansion
- Phenotypic variability in a family with Townes-Brocks syndrome
- The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy
- Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1