Nakae Jun | Department Of Pediatrics Hokkaido University School Of Medicine

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著作論文

Two Novel Aquaporin-2 Mutations in a Sporadic Japanese Patient with Autosomal Recessive Nephrogenic Diabetes Insipidus
Two Novel Mutations of Thiazide-Sensitive Na-Cl Cotransporter (TSC) Gene in Two Sporadic Japanese Patients with Gitelman Syndrome
Turner Syndrome with Crohn Disease
Two mutations of the Gsα gene in two Japanese patients with sporadic pseudohypoparathyroidism type Ia
Evaluation of Bone Mineral Density in Patients with Turner Syndrome
A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal
A Japanese Case with Frasier Syndrome Caused by the Splice Junction Mutation of WT1 Gene
Mutations of the CYP21 Gene in Nonclassical Steroid 21-Hydroxylase Deficiency in Japan
Prenatal Diagnosis of Steroid 21-Hydroxylase Deficiency by the Modified Polymerase Chain Reaction to Detect Splice Site Mutation in the CYP21 Gene
PREDOMINANCE OF THE MUTATION AT 1138 OF THE cDNA FOR THE FIBROBLAST GROWTH FACTOR RECEPTOR 3 IN JAPANESE PATIENTS WITH ACHONDROPLASIA

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