スポンサーリンク
Department Of Pediatrics Asahikawa Medical College | 論文
- Association of SLC6A9 Gene Variants with Human Essential Hypertension
- 43 Common origin of the Q258X mutation in StAR gene responsible for congenital aderenal lipoid hyperplasia in Japanese
- The Role of N-Terminal Pro-B-Type Natriuretic Peptide in the Diagnosis of Congestive Heart Failure in Children : Correlation With the Heart Failure Score and Comparison With B-Type Natriuretic Peptide
- A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions
- A Male Patient with Severe Growth Retardation, Immunodeficiency and Diabetes Mellitus : A New Syndrome?
- 出生時の臍帯血および羊水エリスロポエチン値と胎児心拍異常との関連
- 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
- 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
- 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
- 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