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American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2017, Volume 173, Issue 1, pp. i - i
The cover image, by James J. O'Byrne et al., is based on the Clinical Report Bicoronal and metopic craniosynostosis in association with a de novo unbalanced... 
Journal Article
by Hamdan, Fadi F and Myers, Candace T and Cossette, Patrick and Lemay, Philippe and Spiegelman, Dan and Laporte, Alexandre Dionne and Nassif, Christina and Diallo, Ousmane and Monlong, Jean and Cadieux-Dion, Maxime and Dobrzeniecka, Sylvia and Meloche, Caroline and Retterer, Kyle and Cho, Megan T and Rosenfeld, Jill A and Bi, Weimin and Massicotte, Christine and Miguet, Marguerite and Brunga, Ledia and Regan, Brigid M and Mo, Kelly and Tam, Cory and Schneider, Amy and Hollingsworth, Georgie and FitzPatrick, David R and Donaldson, Alan and Canham, Natalie and Blair, Edward and Kerr, Bronwyn and Fry, Andrew E and Thomas, Rhys H and Shelagh, Joss and Hurst, Jane A and Brittain, Helen and Blyth, Moira and Lebel, Robert Roger and Gerkes, Erica H and Davis-Keppen, Laura and Stein, Quinn and Chung, Wendy K and Dorison, Sara J and Benke, Paul J and Fassi, Emily and Corsten-Janssen, Nicole and Kamsteeg, Erik-Jan and Mau-Them, Frederic T and Bruel, Ange-Line and Verloes, Alain and Õunap, Katrin and Wojcik, Monica H and Albert, Dara V.F and Venkateswaran, Sunita and Ware, Tyson and Jones, Dean and Liu, Yu-Chi and Mohammad, Shekeeb S and Bizargity, Peyman and Bacino, Carlos A and Leuzzi, Vincenzo and Martinelli, Simone and Dallapiccola, Bruno and Tartaglia, Marco and Blumkin, Lubov and Wierenga, Klaas J and Purcarin, Gabriela and O’Byrne, James J and Stockler, Sylvia and Lehman, Anna and Keren, Boris and Nougues, Marie-Christine and Mignot, Cyril and Auvin, Stéphane and Nava, Caroline and Hiatt, Susan M and Bebin, Martina and Shao, Yunru and Scaglia, Fernando and Lalani, Seema R and Frye, Richard E and Jarjour, Imad T and Jacques, Stéphanie and Boucher, Renee-Myriam and Riou, Emilie and Srour, Myriam and Carmant, Lionel and Lortie, Anne and Major, Philippe and Diadori, Paola and Dubeau, François and D’Anjou, Guy and Bourque, Guillaume and Berkovic, Samuel F and Sadleir, Lynette G and Campeau, Philippe M and Kibar, Zoha and Lafrenière, Ronald G and Girard, Simon L and Mercimek-Mahmutoglu, Saadet and Boelman, Cyrus and Rouleau, Guy A and ... and Deciphering Dev Disorders Study and Deciphering Developmental Disorders Study
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 664 - 685
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 44 - 56
Journal Article
Clinical Dysmorphology, ISSN 0962-8827, 03/2016, Volume 25, Issue 2, pp. 45 - 49
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2018, Volume 123, Issue 1, pp. 28 - 42
Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders... 
Oxidative Phosphorylation Defect | Cardiomyopathy | Mitochondrial disease | Lactic acidosis | Mitochondrial translation optimization 1 | Ketogenic diet | MEDICINE, RESEARCH & EXPERIMENTAL | DEFECTS | DISORDERS | MITOCHONDRIAL TRANSFER-RNAS | TRANSLATION | CHILDREN | HYPERTROPHIC CARDIOMYOPATHY | DISEASE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | LACTIC-ACIDOSIS | MUTATIONS | DYSFUNCTION | Brain - diagnostic imaging | Frameshift Mutation | Metabolism, Inborn Errors - diagnostic imaging | Humans | Mitochondrial Diseases - metabolism | Child, Preschool | Infant | Male | Female | Cardiomyopathy, Hypertrophic - diagnostic imaging | Child | Hepatic Encephalopathy - diagnostic imaging | Infant, Newborn | Mitochondrial Diseases - genetics | Cardiomyopathy, Hypertrophic - genetics | Brain - physiopathology | Oxidative Phosphorylation | Hepatic Encephalopathy - physiopathology | Hepatic Encephalopathy - genetics | Metabolism, Inborn Errors - genetics | Carrier Proteins - genetics | Carrier Proteins - metabolism | Biopsy | Cardiomyopathy, Hypertrophic - physiopathology | Adolescent | Mitochondrial Diseases - physiopathology | Metabolism, Inborn Errors - physiopathology | Index Medicus | MTO1, Mitochondrial tRNA Translation Optimization 1 | Q-TOF, quadrupole time-of-flight | GDD, global developmental delay | MRI, magnetic resonance imaging | WES, whole exome sequencing | OXPHOS, oxidative phosphorylation | ID, intellectual disability | HCM, hypertrophic cardiomyopathy
Journal Article
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 09/2018, Volume 16, pp. 31 - 35
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD) is a rare X-linked disorder associated with the accumulation of 2-methyl-3-hydroxybutyric acid... 
Long-term follow- up | Cognitive function | Neurocognitive function | Psychometric test | DIAGNOSIS | Long-term follow-up | DISEASE | ABILITY | GENETICS & HEREDITY | ISOLEUCINE METABOLISM | MHBD DEFICIENCY | INBORN ERROR
Journal Article
JOURNAL OF CLINICAL ONCOLOGY, ISSN 0732-183X, 05/2011, Volume 29, Issue 15, pp. e13519 - e13519
Conference Proceeding
JIMD Reports, ISSN 2192-8312, 05/2019, Volume 47, Issue 1, pp. 35 - 40
BackgroundInherited trimethylaminuria (TMAU), a rare genetic disorder of hepatic metabolism of trimethylamine (TMA) causing excessive accumulation of... 
Journal Article
1848, Shakespeare society. Publications. no. 39, Volume no. 39., xxi, [1], 148 pages, [14] leaves of plates (2 folded)
Book
The Journal of Pathology, ISSN 0022-3417, 08/2011, Volume 224, Issue 4, pp. 564 - 574
Journal Article
JOURNAL OF THORACIC ONCOLOGY, ISSN 1556-0864, 06/2011, Volume 6, Issue 6, pp. S423 - S424
Conference Proceeding
JACC: Cardiovascular Interventions, ISSN 1936-8798, 05/2019, Volume 12, Issue 9, pp. 835 - 843
The purpose of this study was to evaluate the association between the method of procedural sedation and outcomes for congenital cardiac catheterization... 
cost | pediatric cardiology | outcomes | anesthesia | CARDIAC & CARDIOVASCULAR SYSTEMS | PULMONARY VALVE-REPLACEMENT | SCORE | PROPENSITY
Journal Article
International Archives of Allergy and Immunology, ISSN 1018-2438, 04/1999, Volume 118, Issue 2-4, pp. 466 - 468
  From Molecular Science to the Treatment of Allergy 
Index
Journal Article
International Archives of Allergy and Immunology, ISSN 1018-2438, 04/1999, Volume 118, Issue 2-4, pp. 469 - 471
  From Molecular Science to the Treatment of Allergy 
Index
Journal Article