Hayasaka K | Department Of Pediatrics Yamagata University School Of Medicine

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著作論文

Genetic Analysis of Shwachman-Diamond Syndrome : Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations
Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese
Mutation analysis of phenylketonuria in Yamagata prefecture, Japan
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome : unequal sister chromatid exchange during paternal gametogenesis
Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene : The common -3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese
Congenital Central Hypoventilation Syndrome : A Novel Mutation of the RET Gene in an Isolated Case
Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease
Successful Unrelated Donor Bone Marrow Transplantation for Shwachman-Diamond Syndrome with Leukemia
CD48 expression on leukocytes in infectious diseases: Flow cytometric analysis of surface antigen
Polymorphisms of Heme Oxygenase-1 and Bilirubin UDP-Glucuronosyltransferase Genes are not Associated with Kawasaki Disease Susceptibility
A new form of total anomalous pulmonary venous connection with double drainage
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
Beraprost sodium for pulmonary hypertension with congenital heart disease
Management of Functional Pulmonary Atresia with Isoproterenol in a Neonate with Ebstein's Anomaly
Microangiopathic Hemolytic Anemia and Thrombocytopenia in a Child with Atrial Septal Defect and Pulmonary Hypertension
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease : nonsense mutation probably causes a recessive phenotype
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
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

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