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Journal Article
Molecular Syndromology, ISSN 1661-8769, 07/2016, Volume 7, Issue 3, pp. 110 - 121
Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 clinically opposite growth-affecting disorders belonging to the group of congenital... 
Review Article | Beckwith-Wiedemann syndrome | Growth-affecting disorder | Uniparental disomy | Scoring systems | Imprinted genes | Silver-Russell syndrome | Review
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2016, Volume 24, Issue 5, pp. 652 - 659
Journal Article
Lancet Neurology, ISSN 1474-4422, 2011, Volume 10, Issue 9, pp. 806 - 818
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2011, Volume 19, Issue 9, pp. 947 - 958
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
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2017, Volume 173, Issue 6, pp. 1620 - 1624
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2015, Volume 167, Issue 8, pp. 1913 - 1915
Recently, a novel autosomal recessive developmental delay‐macrocephaly syndrome was described caused by homozygous or compound heterozygous mutations in the... 
KPTN protein | megalencephaly | intellectual disability | whole exome sequencing | homozygote | Homozygote | Intellectual disability | Megalencephaly | Whole exome sequencing | GENETICS & HEREDITY | FRAMEWORK | Megalencephaly - genetics | Young Adult | Humans | Adult | Female | Male | Mutation | Microfilament Proteins - genetics | Intellectual Disability - genetics
Journal Article
Journal Article
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 02/2018, Volume 22, Issue 2, pp. 913 - 925
Journal Article
Nature genetics, ISSN 1061-4036, 2016, Volume 48, Issue 10, pp. 1185 - 1192
Journal Article