Y. Mori

Severe infantile myotubular myopathy with complete atrioventricular block

I. Nonaka, T. Fukusato, Y. Yanagawa, 2008, Pediatrics international : official journal of the Japan Pediatric Society.

A patient of short stature with normal GH secretion, but a low serum IGF-I level.

H. Kodama, D. Mochizuki, Y. Yanagawa, 2000, Endocrine journal.

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2).

H. Kodama, D. Mochizuki, Y. Yanagawa, 2000, American journal of medical genetics.

Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease

H. Kodama, T. Abe, Y. Murata, 1998, Journal of Inherited Metabolic Disease.

Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III.

T. Abe, Y. Yamanouchi, T. Takano, 1997, American journal of medical genetics.

Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation.

A. Tanaka, H. Takikawa, H. Kodama, 2008, Internal medicine.

A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein.

M. Maeda, M. Kasahara, T. Abe, 2001, Biochimica et biophysica acta.