スポンサーリンク
School Of Allied Medical Sciences Nagasaki University | 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
- P300 Before and Affer Transient Hard Exercise
- The Effect of Cold Water Stimulation on Pain-related Somatosensory Evoked Potential in Humans
- Inter-individual Differences of Motoneuron Pool Excitability Assessed by H-reflex are Associated with the Presynaptic Inhibition of la Afferents
- Soleus Motoneuron Pool Excitability in the Resting State Affects the Amount of Reciprocal Inhibition During Dorsiflexion
- 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)