MEVALONIC ACIDEMIA : FIRST CASE OF JAPAN
スポンサーリンク
概要
- 論文の詳細を見る
- Japan Society of Human Geneticsの論文
- 1997-09-30
著者
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Nakayama Masahiro
Department Of Internal Medicine Division Of Cardiology Showa University Fujigaoka Hospital
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Arai Tatsuya
Teijin Biolaboratories
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Okamoto Nobuhiko
Department Of Planning And Research Osaka Medical Center And Research Institute For Maternal And Chi
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Narahara Chie
Department Of Maternal Medicine Osaka Medical Center And Research Institute For Maternal And Child H
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Fujioka Masashi
Department Of Pediatrics Pl Hospital
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KIM Han-suk
Department of Pediatrics, Osaka Medical College
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IMADA Isao
Teijin Biolaboratories
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TODA Soichiro
Teijin Biolaboratories
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Kim Han-suk
Department Of Pediatrics Osaka Medical College
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Nakayama M
Department Of Laboratory Medicine Osaka Medical Center And Research Institute For Maternal And Child
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Nakayama Masahiro
Department Of Applied Electronics Faculty Of Industrial Science And Technology Tokyo University Of S
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Narahara Chie
Department Of Maternal Medicine Osaka Medical Center And Research Institute For Maternal And Child H
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Okamoto Nobuhiko
Department Of Planning And Research Osaka Medical Center And Research Institute For Maternal And Chi
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Okamoto Nobuhiko
Department Of Molecular Cytogenetics Medical Research Institute And School Of Biomedical Science Tokyo Medical And Dental University
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OKAMOTO Nobuhiko
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health
関連論文
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- Cow's milk allergy presenting Hirschsprung's disease-mimicking symptoms
- Expression of MEF2 Genes during Human Cardiac Development
- Morphological differences in cardiovascular anomalies induced by bis-diamine between Sprague-Dawley and Wistar rats
- Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM
- Identification of the motilin cells in duodenal epithelium of premature infants
- A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
- IS-003 Focal Intestinal Perforation in Extremely-low-birth-weight Neonates(the 44th Annual Meeting of Japanese Society of Pediatric Surgeons)
- Chromosome 1q deletion and congenital glaucoma
- Teratogenic effect of bis-diamine on embryonic rat heart
- Enzymatic Formation of Plant Cerebroside : Properties of UDP-glucose : Ceramide Glu-cosyltransferase in Radish Seedlings
- A NOVEL MUTATION IN L1CAM GENE IN A JAPANESE PATIENT WITH X-LINKED HYDROCEPHALUS
- L1CAM mutation in a Japanese family with x-linked hydrocephalus: a study for genetic counseling
- Effects of Early Coronary Reperfusion on the Time Course of Signal-averaged Electrocardiogram After Myocardial Infarction and Its Relation to Late Arrhythmic Events : Effects of Early Coronary Reperfusion on Signal-averaged ECGs
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- Platelet functin in pregnant women receiving aspirin and dipyridamole
- A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome
- Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
- Changed expression of heat shock proteins in various pathological findings in placentas with intrauterine fetal growth restriction
- Risk of Missing Colorectal Cancer During Laparoscopic Cholecystectomy
- Focal intestinal perforation in extremely-low-birth-weight neonates : etiological consideration from histological findings
- Intestinal Obstruction Caused by Congenital Cytomegalovirus Infection : Report of a Case
- MEVALONIC ACIDEMIA : FIRST CASE OF JAPAN
- Fetal Echocardiographic Assessment of Endocardial Fibroelastosis in Maternal Anti-SSA Antibody-Associated Complete Heart Block
- A PATIENT WITH SCHINZEL-GIEDION SYNDROME AND A REVIEW OF 20 PATIENTS
- Determination of Small-Signal Parameters and Noise Figures of MESFET's by Physics-Based Circuit Simulator Employing Monte Carlo Technique(Special Issue on Microwave and Millimeter Wave Technology)
- Noise Analysis of GaAs-MESFETs by Physics-Based Circuit Simulator Employing Monte Carlo Technique(Microwaves, Millimeter-Waves)
- Congenital systemic juvenile xanthogranuloma with placental lesion
- Suspected involvement of the X chromosome in placental mesenchymal dysplasia
- Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation
- A Potent Solvent for Dissolution of Metallic Copper
- Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
- HRAS mutants identified in Costello syndrome patients can induce cellular senescence : possible implications for the pathogenesis of Costello syndrome
- Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
- Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
- Mucolipidosis II and III alpha/beta : mutation analysis of 40 Japanese patients showed genotype-phenotype correlation
- Long-term outcome of ovotesticular disorder of sex development : A single center experience
- Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis
- Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination
- Diaphragmatic hernia following coronary artery bypass surgery with the right gastroepiploic artery : case report and literature review
- Age-related Changes of .ALPHA.-Tocopherol Transfer Protein Expression in Rat Liver.
- Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia