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Pediatric Pulmonology, ISSN 8755-6863, 12/2015, Volume 50, Issue 12, pp. 1270 - 1276
Journal Article
American Journal of Surgical Pathology, ISSN 0147-5185, 07/2011, Volume 35, Issue 7, pp. 1086 - 1087
Journal Article
The American Journal of Surgical Pathology, ISSN 0147-5185, 07/2011, Volume 35, Issue 7, pp. 1086 - 1087
Journal Article
Respiratory Medicine Case Reports, ISSN 2213-0071, 2018, Volume 25, pp. 61 - 65
A 2-month-old female with worsening cough, respiratory distress and an abnormal chest X-ray was referred to our institution for further evaluation of suspected... 
Filamin A | Congenital heart defect | Pulmonary arterial hypertension | Patent ductus arteriosus | Interstitial lung disease | Pulmonary interstitial glycogenosis | Case Report
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 7/2014, Volume 128, Issue 1, pp. 111 - 122
Journal Article
American Journal of Respiratory Cell and Molecular Biology, ISSN 1044-1549, 04/2009, Volume 40, Issue 4, pp. 443 - 453
Journal Article
Pediatric Pulmonology, ISSN 8755-6863, 03/2014, Volume 49, Issue 3, pp. E112 - E115
Journal Article
Journal Article
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
Human Mutation, ISSN 1059-7794, 12/2011, Volume 32, Issue 12, pp. 1381 - 1384
Journal Article
Chest, ISSN 0012-3692, 2013, Volume 144, Issue 3, pp. 794 - 804
Journal Article
Pediatric Pulmonology, ISSN 8755-6863, 12/2018, Volume 53, Issue 12, pp. 1651 - 1658
Objectives We sought to describe the phenotype for patients with P.I.G. including presentation, evaluation, cardiac co-morbidities, high resolution computed... 
phenotype | glucocorticords | infant newborn | pulmonary hypertension | cysts | biopsy | oxygen | interstitial lung diseases | DIFFUSE LUNG-DISEASE | NEUROENDOCRINE CELL HYPERPLASIA | CLASSIFICATION | RESPIRATORY SYSTEM | PEDIATRICS | PERSISTENT TACHYPNEA | INFANCY | Biopsy | Age | Pulmonary hypertension
Journal Article