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Department Of Clinical Molecular Medicine Division Of Diabetes Digestive And Kidney Disease Kobe Uni | 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
- 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
- Inactivation of HDAC5 by SIK1 in AICAR-treated C2C12 Myoblasts