Matsumoto Tadashi | Department Of Pediatrics Nagasaki University School Of Medicine

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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.
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
Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy
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
Special Report A Genetic Counseling System in Nagasaki Prefecture: The Course and Current Status of the Genetic Counseling Unit in Nagasaki University Hospital
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32
A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy
A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment
Autosomal dominant onychodystrophy and congenital sensorineural deafness
A severe case of Moebius syndrome with calcification on the fourth ventricular floor
New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome
A NAGER ACROFACIAL DYSOSTOSIS SYNDROME PATIENT WITH SEVERE RESPIRATORY DISTRESS SYNDROME (RDS)
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
Quantitative EEG Analyses and Surgical Outcome After Corpus Callosotomy
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
Miller syndrome with novel dihydroorotate dehydrogenase gene mutations
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

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