Kure Shigeo | Department Of Medical Genetics Tohoku University School Of Medicine
スポンサーリンク
概要
Department Of Medical Genetics Tohoku University School Of Medicine | 論文
- Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
- A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- Genotyping of Single Nucleotide Polymorphisms (SNPs) Influencing Drug Response by Competitive Allele-specific Short Oligonucleotide Hybridization (CASSOH) with Immunochromatographic Strip