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国立成育医療センター 臨床検査部 | 論文
- PO-174 術前化学療法が著効し切除可能となった全摘し得た膵芽腫の一乳児例(腫瘍(食道・膵・乳腺),ポスターセッション,病気の子供達に笑顔 小児外科に夢そして革新を,第47回 日本小児外科学会学術集会)
- 医学研究使用のための剖検脳組織の凍結保存--国立精神・神経センター病院での取り組み
- Gonadoblastoma (GB)を発症した2例における構造異常Y染色体のDNA解析 : GB遺伝子座位の検討
- 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
- 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
- 特異な胃病変を呈した小腸大腸型クローン病の1例
- 先天性甲状腺機能低下症検査における低出生体重児2回目採血の有用性について