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Department Of Pediatrics Kobe University Graduate School Of Medicine | 論文
- Serum KL-6 Level and Pulmonary Function in Preterm Infants with Chronic Lung Disease
- Management of diarrhea-associated hemolytic uremic syndrome in children
- Evaluation of mutation effects on UGT1A1 activity toward 17β-estradiol using liquid chromatography–tandem mass spectrometry
- SMN2 and NAIP gene dosages in Vietnamese patients with spinal muscular atrophy
- Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation
- 先天性全身性脂肪萎縮症の2乳児例
- Stability of Doxorubicin and Vincristine in Various Infusion Solutions for VAD Therapy
- Two Adjacent Mutations on Chromosome 16 Discovered in a Patient Presenting with Generalized Convulsions after Influenza A Virus Infection
- A surviving case of papillorenal syndrome with the phenotype of Potter sequence
- 209 A CASE OF PRIMARY HYPOTHYROIDISM WITH REVERSION OF GONADOTROPIN INDEPENDENT TO GONADOTROPIN DEPENDENT PRECOCIOUS PUBERTY
- 240 A CASE OF PSEUDOHYPOPARATHYROIDISM WITH SUBCTANEOUS METAPLASTIC BONE FORMATION
- 153 A CASE OF A 2 YEAR OLD FEMALE DIAGNOSED WITH TYPE 1 DIABETES MELLITUS AND POLYMYOSITIS
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- Epigallocatechin gallate inhibits sphere formation of neuroblastoma BE(2)-C cells
- FLNA p.V528M substitution is neither associated with bilateral periventricular nodular heterotopia nor with macrothrombocytopenia
- Contemporary retrotransposition of a novel non-coding gene induces exon-skipping in dystrophin mRNA
- Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
- Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene
- A case of anti-GA1 antibody-positive Fisher syndrome with elevated tau protein in cerebrospinal fluid
- Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines