Matsumoto Hiroshi | Department Of Pediatrics National Defense Medical College

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著作論文

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
Novel germline mutation in the RB1 gene with multifocal bone tumors following retinoblastoma
Miller Fisher syndrome with transient coma : comparison with Bickerstaff brainstem encephalitis
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

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