スポンサーリンク
Department Of Pediatrics Nagasaki University Graduate School Of Biomedical Sciences | 論文
- 66 Conventional detection of somatic GNAS1 mutation utilizing peripheral blood leukocyte in McCune-Albright syndrome
- 64 GNAS1 mutation in a Japanese boy with progressive osseous heteroplasia.
- 98 A male-raised 46, XX case of congenital adrenal hyperplasia due to 21 hydroxylase deficiency
- 101 A female case of classical 3β-hydroxysteroid dehydrogenase deficiency with multicystic ovary and anovulatory menstruation : Evaluation of ovarian function after puberty
- 109 A case of allergy to gelatin included in the gonadotropin-releasing hormone analog "depot leuprorelin acetate"
- Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
- 83 Analysis of suppressor of cytokine signaling-2 (SOCS-2) gene in overgrowth syndrome
- Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome
- A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12
- Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome