Matsumoto N | 長崎大学 医歯薬学研究科人類遺伝学
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概要
長崎大学 医歯薬学研究科人類遺伝学 | 論文
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
- A Japanese patient with a mild Lenz-Majewski syndrome
- 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
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia