NISHIMURA Gen | Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center

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概要

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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
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
-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
二分喉頭蓋 : 単独ではなく複合奇形の一症候として存在する奇形である
Hajdu-Cheney syndrome : Infantile onset of hydrocephalus and serpentine fibulae
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia
TRPV4-pathy, a novel channelopathy affecting diverse systems
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia
A Case Report of Dysosteosclerosis Observed from the Prenatal Period

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