SUZUKI Yoichi | Department of Medical Genetics, Tohoku University School of Medicine

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概要

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著作論文

A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome : two missense mutations (R45Q and P396S) and a 17-kb deletion
Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations
Association study of the C3 gene with adult and childhood asthma
No Association of Polymorphisms in the 5' Region of the CD14 Gene and Food Allergy in a Japanese Population
Anaplastic ganglioglioma with sarcomatous component : An immunohistochemical study and molecular analysis of p53 tumor suppressor gene
Association of the RIP2 Gene with Childhood Atopic Asthma
Association between genetic variation in the gene for death-associated protein-3 (DAP3) and adult asthma
Neonatal-Onset Brainstem Reticular Reflex Myoclonus Following a Prenatal Brain Insult : Generalized Myoclonic Jerk and a Brainstem Lesion
An association study of asthma and related phenotypes with polymorphisms in negative regulator molecules of the TLR signaling pathway
B-56. Clinical Significance of Early Epilepsy
Filaggrin null mutations are associated with atopic dermatitis and elevated levels of IgE in the Japanese population: a family and case–control study
114. Clinical Observations of the Ventriculo-atrial Shunt
Enzyme-catalyzed Ring-opening Polymerization of β-Butyrolactone Using PHB Depolymerase
CHEMICAL SHIFT OF OH PROTONS OF ALKYLPHENOLS IN CARBON TETRACHLORIDE ETHYL ACETATE MIXED SOLVENT IN PRESENCE OF CADMIUM NITRATE
Tuberculous Hypertrophic Pachymeningitis Involving the Posterior Fossa and High Cervical Region : Case Report
Multiple Cerebral Arteriovenous Malformations : Case Report

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