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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
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 753 - 761
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 52, Issue 1, pp. 61 - 70
Journal Article
Genetics in Medicine, ISSN 1098-3600, 06/2019, Volume 21, Issue 6, pp. 1308 - 1318
Germline WWOX pathogenic variants have been associated with disorder of sex differentiation (DSD), spinocerebellar ataxia (SCA), and WWOX-related epileptic... 
epilepsy | WWOX | encephalopathy | Life Sciences | Genetics | Human genetics
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 10/2019, Volume 40, Issue 10, pp. 1713 - 1730
Ataxia‐telangiectasia (A‐T) is a recessive disorder caused by biallelic pathogenic variants of ataxia‐telangiectasia mutated (ATM). This disease is... 
checkpoint | phenotype | mutation | ataxia‐telangiectasia | ataxia‐telangiectasia mutated (ATM) | splice | Pathogenicity | Phosphorylation | Phenotypes | Radiosensitivity | Transcription | Genotoxicity | Lymphoblastoid cell lines | Classification | Ataxia | Lymphocytes T | Localization | Hereditary diseases
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 07/2019, Volume 21, Issue 7, pp. 1667 - 1671
The article has been corrected to account for one patient being investigated through genome sequencing rather than exome sequencing as originally published;... 
Journal Article
Brain and Development, ISSN 0387-7604, 10/2018, Volume 40, Issue 9, pp. 768 - 774
Journal Article
Journal of Clinical Pathology, ISSN 0003-4967, 01/2015, Volume 52, Issue 1, p. 61
AIM: To quantify Toxoplasma gondii DNA using a specially constructed artificial template as competitor in a nested polymerase chain reaction (PCR). METHODS:... 
Journal Article
Disability and Health Journal, ISSN 1936-6574, 10/2019, Volume 12, Issue 4, pp. 657 - 664
Knowledge of the health status and care management of elderly individuals with polyhandicap* is lacking; however, a better understanding of the natural course... 
Medications | Health status | Polyhandicap | Comorbidities | Rehabilitation procedures | Ageing
Journal Article
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