NISHIMURA GEN | Department of Radiology, Tokyo Metropolitan Children's Hospital

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著作論文

Postnatal remission of ocular, auditory, and somatic findings in Stickler syndrome
A Japanese patient with a mild Lenz-Majewski syndrome
A compound heterozygote of novel and recurrent DTDST mutations results in a novel intermediate phenotype of Desbuquois dysplasia, diastrophic dysplasia, and recessive form of multiple epiphyseal dysplasia
Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia
A case of megalocornea-mental retardation syndrome complicated with bilateral sensorineural hearing impairment
Brain MR findings in a patient with merosin-negative congenital muscular dystrophy
Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB
Auxological and Radiological Manifestations of Patients with Hypochondroplasia Negative for N540K Mutation in Fibroblast Growth Factor Receptor 3 Gene
Joint laxity, vitreoretinal degeneration, facial abnormalities, and generalized skeletal alterations : A new syndrome?
A case of craniofacial dysmorphism, congenital heart defects, coccygeal skin folds, generalized skeletal alterations, and hemihypertrophy with linear skin hypopigmentation : A new syndrome?
-1220-USEFULNESS OF MRI (DBI METHOD) IN ESTIMATION OF CERVICOTHORACIC OBSTRUCTIVE VASCULAR DISEASE : THE 54th ANNUAL SCIENTIFIC MEETING OF THE JAPANESE CIRCULATION SOCIETY
A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17α-Hydroxylase/17m,20-Lyase Deficiency, but without Obvious CYP17 Gene Mutations
Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II

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