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The American Journal of Human Genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 986 - 1001
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 11/2018, Volume Publish Ahead of Print, Issue 3, pp. 325 - 333
OBJECTIVES:Loss of the complement inhibitor CD55 leads to a syndrome of early-onset protein-losing enteropathy (PLE), associated with intestinal... 
NUTRITION & DIETETICS | decay accelerating factor | COMPLEMENT INHIBITOR ECULIZUMAB | intestinal lymphangiectasia | anti-C5 | PEDIATRICS | GASTROENTEROLOGY & HEPATOLOGY | Treatment outcome | Drug therapy | Thrombosis | Analysis | Blood clot
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1172 - 1180
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 07/2017, Volume 377, Issue 1, pp. 87 - 89
CD55 (complement decay-accelerating factor) inhibits the alternative and classical arms of the complement pathway. Three patients with protein-losing... 
Proteins | Genotype & phenotype | Decay-accelerating factor | Gastrointestinal diseases | Monoclonal antibodies | Mutation | Patients
Journal Article
PLoS genetics, ISSN 1553-7404, 04/2019, Volume 15, Issue 4, pp. e1008088 - e1008088
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 2019, Volume 64, Issue 6, pp. 589 - 595
Translation of mitochondrial-specific DNA is required for proper mitochondrial function and energy production. For this purpose, an elaborate network of... 
TISSUE-SPECIFICITY | DISEASES | MUTATIONS | TRANSLATION | DNA | GENETICS & HEREDITY
Journal Article
Journal Article
Rambam Maimonides medical journal, ISSN 2076-9172, 01/2017, Volume 8, Issue 1, p. e0014
This Supplement of Rambam Maimonides Medical Journal presents the abstracts from the Eleventh Rambam Research Day. These abstracts represent the newest basic... 
clinical research | Research
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 1 - 14
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of... 
Pathogens | Charging | Aminoacylation | tRNA | Cardiomyopathy | Disorders | Amino acids | Homology | Protein biosynthesis | Patients | Defects | Proteins | Pathogenicity | Mitochondria | Protein synthesis | Fibroblasts | Electron transport | Glutamine | Index Medicus
Journal Article
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2014, Volume 22, Issue 2, pp. 277 - 279
Journal Article