スポンサーリンク
Department of Pediatrics, Kumamoto University Graduate School of Medical Science | 論文
- Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications.
- Mirror duplication of chromosome 21 with complete phenotype of Down syndrome.
- A Japanese patient with a mild Lenz-Majewski syndrome
- The Jewish-type Cohen syndrome complicated with refractory bronchial asthma and depression
- Two infantile cases of congenital myotonic dystrophy with cholelithiasis/cholestasis
- Genotype-phenotype correlation of 5p- syndrome : pitfall of diagnosis
- Renal tubular dysgenesis complicated with severe cranium hypoplasia
- Protein-losing enteropathy complicated with recurrent convulsions and developmental delay in a 4-month-old boy
- Genetic Counseling System in Nagasaki University Hospital and Genetic Services in Nagasaki Prefecture-Now and Future
- A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy
- Epidemiological and clinical studies of West syndrome in Nagasaki
- Developmental Assessment-Based Surgical Intervention for Intractable Epilepsies in Infants and Young Children
- A case of achondroplasia with severe respiratory failure, profound developmental delay and hypercreatine phosphokinasemia
- The calming effect of a maternal breast milk odor on the human newborn infant
- 長崎県妊婦におけるサイトメガロウイルス感染の血清疫学的調査
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome