Kohno Yoichi | 千葉大学大学院医学研究院公衆衛生学

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著作論文

A case of 6-pyruvoyl-tetrahydropterin synthase deficiency demonstrates a more significant correlation of L-Dopa dosage with serum prolactin levels than CSF homovanillic acid leyels
Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency
Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency
Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population
Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency
An Ile/Val polymorphism at codon 1464 of the ATP7A gene
Identification of three novel mutations in the MNK gene in three unrelated Japanese patients with classical Menkes disease
Retrocerebellar arachnoid cysts in siblings with mental retardation and undescended testis
Empty sella syndrome in nevoid basal cell carcinoma syndrome
γ-Irradiation Deregulates Cell Cycle Control and Apoptosis in Nevoid Basal Cell Carcinoma Syndrome-derived Cells
A splenial lesion with transiently reduced diffusion in clinically mild encephalitis is not always reversible : A case report
U7 snRNA-mediated correction of aberrant splicing caused by activation of cryptic splice sites
Serotypes of Haemophilus Influenzae Strains Isolated from Pediatric Patients with Respiratory Tract Infections
小児下気道感染症由来インフルエンザ菌の抗菌薬感受性に関する検討
Value of washed sputum gram stain smear and culture for management of lower respiratory tract infections in children

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