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Department Of Pediatrics Hokkaido University Graduate School Of Medicine | 論文
- The applications of time-frequency analyses to ictal magnetoencephalography in neocortical epilepsy
- Generalized spike-wave discharges involve a default mode network in patients with juvenile absence epilepsy : A MEG study
- MEG time-frequency analyses for pre- and post-surgical evaluation of patients with epileptic rhythmic fast activity
- A Novel Initial Codon Mutation of the Thiazide-sensitive Na-Cl Cotransporter Gene in a Japanese Patient with Gitelman's Syndrome
- 原発性免疫不全症に対する造血幹細胞移植
- 43 Common origin of the Q258X mutation in StAR gene responsible for congenital aderenal lipoid hyperplasia in Japanese
- Efficacy of Oral Sildenafil in a Beraprost-Treated Patient With Severe Pulmonary Hypertension Secondary to Type I Glycogen Storage Disease
- Phenotype-genotype correlation in two patients with 12q proximal deletion
- Case Study of a 15-Year-old Boy with McCune-Albright Syndrome Combined with Pituitary Gigantism : Effect of Octreotide-long Acting Release (LAR) and Cabergoline Therapy
- Four Japanese Patients with Adrenal Hypoplasia Congenita and Hypogonadotropic Hypogonadism Caused by DAX-1 Gene Mutations : Mutant DAX-1 Failed to Repress Steroidogenic Acute Regulatory Protein (StAR) and Luteinizing Hormone β-subunit Gene Promoter Activi
- A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia
- Novel SLC12A1 (NKCC2) Mutations in Two Families with Bartter Syndrome Type 1
- A Novel Missense Mutation (P366T) of the LHX4 Gene Causes Severe Combined Pituitary Hormone Deficiency with Pituitary Hypoplasia, Ectopic Posterior Lobe and a Poorly Developed Sella Turcica
- Two Novel Aquaporin-2 Mutations in a Sporadic Japanese Patient with Autosomal Recessive Nephrogenic Diabetes Insipidus
- A Case of Achondroplasia Associated with Cervicomedullary-Junction Compression
- 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