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2017, Current Topics in Environmental Health and Preventive Medicine, ISBN 9789811027109
This book presents the latest findings on biological, epidemiological, and clinical investigations of RNF213, which is thought to be involved in many... 
Medicine | Neurology | Neurosurgery | Public health
Web Resource
Journal Article
Journal of Epidemiology, ISSN 0917-5040, 2016, Volume 26, Issue 9, pp. 493 - 511
Journal Article
Pediatric Pulmonology, ISSN 8755-6863, 06/2016, Volume 51, Issue 6, pp. E21 - E23
Journal Article
Clinical Medicine Insights: Circulatory, Respiratory and Pulmonary Medicine, ISSN 1179-5484, 2015, Volume 9, pp. 57 - 68
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2013, Volume 132, Issue 3, pp. 648 - 655.e1
Journal Article
Journal Article
Pediatric Research, ISSN 0031-3998, 2018, Volume 84, Issue 5, pp. 770 - 777
BACKGROUND: Menkes disease is a copper metabolism disorder caused by mutations in ATP7A, a copper-transporting P-type ATPase. In this study, oral copper... 
MUTANTS | CONGENITAL COPPER DEFICIENCY | THERAPY | METABOLISM | TRAFFICKING | DIETARY | PEDIATRICS | CYTOCHROME-OXIDASE | ANIMAL-MODEL | EXPRESSION | MORPHOLOGY | Copper
Journal Article
BMJ Case Reports, ISSN 1757-790X, 2018, Volume 2018, p. bcr-2018-224573
A 1-year-old Japanese girl was referred to our hospital with a heart murmur. The patient had no other symptoms indicating cardiovascular or respiratory... 
paediatrics | pericardial disease | Pericardium - abnormalities | Humans | Female | Heart Aneurysm - congenital | Infant | Asymptomatic Diseases | Atrial Appendage | Heart | Cardiac arrhythmia | Pediatrics | Congenital diseases | Pulmonary arteries | Surgery | Coronary vessels | Thromboembolism | Thrombosis | Veins & arteries | Defects
Journal Article
The Cleft Palate-Craniofacial Journal, ISSN 1055-6656, 2/2019, Volume 56, Issue 2, pp. 273 - 279
Pai syndrome is a rare congenital disorder, and there are few reports about the long-term prognosis of mental development and surgical results. Here, we report... 
SURGERY | Pai syndrome | BIFID NOSE | surgical treatment | PALATE | prognosis | MEDIAN CLEFT | UPPER LIP | LIPOMAS | long-term follow-up | DENTISTRY, ORAL SURGERY & MEDICINE | CORPUS-CALLOSUM | AGENESIS | PATIENT | mental development | Attention deficit disorder | Literature reviews | Studies | Birth defects | Patients | Children & youth
Journal Article