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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
Human Genetics, ISSN 0340-6717, 2017, Volume 136, Issue 7, pp. 821 - 834
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 05/2016, Volume 24, Issue 5, pp. 652 - 659
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2018, Volume 26, Issue 10, pp. 1478 - 1489
Proximal 6q (6q11-q15) deletions are extremely rare and little is known about their phenotypic consequences. Since parents and caregivers now use social media... 
INTELLECTUAL DISABILITY | MICRODELETION | LANGUAGE | RARE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENES | GENETICS & HEREDITY | INTERSTITIAL DELETIONS | DISORDER | DEVELOPMENTAL DELAY | MUTATIONS | Gastroesophageal reflux | Autism | Phenotypes | DNA microarrays | Clonal deletion | Genes | Social networks | Chromosome 6 | Potassium channels (voltage-gated) | KCNQ5 protein | Defects | Seizures
Journal Article
Journal Article
by Cogné, Benjamin and Ehresmann, Sophie and Beauregard-Lacroix, Eliane and Rousseau, Justine and Besnard, Thomas and Garcia, Thomas and Petrovski, Slavé and Avni, Shiri and McWalter, Kirsty and Blackburn, Patrick R and Sanders, Stephan J and Uguen, Kévin and Harris, Jacqueline and Cohen, Julie S and Blyth, Moira and Lehman, Anna and Berg, Jonathan and Li, Mindy H and Kini, Usha and Joss, Shelagh and von der Lippe, Charlotte and Gordon, Christopher T and Humberson, Jennifer B and Robak, Laurie and Scott, Daryl A and Sutton, Vernon R and Skraban, Cara M and Johnston, Jennifer J and Poduri, Annapurna and Nordenskjöld, Magnus and Shashi, Vandana and Gerkes, Erica H and Bongers, Ernie M.H.F and Gilissen, Christian and Zarate, Yuri A and Kvarnung, Malin and Lally, Kevin P and Kulch, Peggy A and Daniels, Brina and Hernandez-Garcia, Andres and Stong, Nicholas and McGaughran, Julie and Retterer, Kyle and Tveten, Kristian and Sullivan, Jennifer and Geisheker, Madeleine R and Stray-Pedersen, Asbjorg and Tarpinian, Jennifer M and Klee, Eric W and Sapp, Julie C and Zyskind, Jacob and Holla, Øystein L and Bedoukian, Emma and Filippini, Francesca and Guimier, Anne and Picard, Arnaud and Busk, Øyvind L and Punetha, Jaya and Pfundt, Rolph and Lindstrand, Anna and Nordgren, Ann and Kalb, Fayth and Desai, Megha and Ebanks, Ashley Harmon and Jhangiani, Shalini N and Dewan, Tammie and Coban Akdemir, Zeynep H and Telegrafi, Aida and Zackai, Elaine H and Begtrup, Amber and Song, Xiaofei and Toutain, Annick and Wentzensen, Ingrid M and Odent, Sylvie and Bonneau, Dominique and Latypova, Xénia and Deb, Wallid and Redon, Sylvia and Redon, Richard and Bilan, Frédéric and Legendre, Marine and Troyer, Caitlin and Whitlock, Kerri and Caluseriu, Oana and Murphree, Marine I and Pichurin, Pavel N and Agre, Katherine and Gavrilova, Ralitza and Rinne, Tuula and Park, Meredith and Shain, Catherine and Heinzen, Erin L and Xiao, Rui and Amiel, Jeanne and Lyonnet, Stanislas and Isidor, Bertrand and Biesecker, Leslie G and Lowenstein, Dan and Posey, Jennifer E and Denommé-Pichon, Anne-Sophie and ... and Deciphering Dev Disorders Study and CAUSES Study and Deciphering Developmental Disorders study
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 530 - 541
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 06/2013, Volume 22, Issue 11, pp. 2177 - 2185
Journal Article
Genome Medicine, ISSN 1756-994X, 06/2019, Volume 11, Issue 1, pp. 38 - 15
Journal Article
by van der Sluijs, Pleuntje J and Jansen, Sandra and Vergano, Samantha A and Adachi-Fukuda, Miho and Alanay, Yasemin and AlKindy, Adila and Baban, Anwar and Bayat, Allan and Beck-Wödl, Stefanie and Berry, Katherine and Bijlsma, Emilia K and Bok, Levinus A and Brouwer, Alwin F J and van der Burgt, Ineke and Campeau, Philippe M and Canham, Natalie and Chrzanowska, Krystyna and Chu, Yoyo W Y and Chung, Brain H Y and Dahan, Karin and De Rademaeker, Marjan and Destree, Anne and Dudding-Byth, Tracy and Earl, Rachel and Elcioglu, Nursel and Elias, Ellen R and Fagerberg, Christina and Gardham, Alice and Gener, Blanca and Gerkes, Erica H and Grasshoff, Ute and van Haeringen, Arie and Heitink, Karin R and Herkert, Johanna C and den Hollander, Nicolette S and Horn, Denise and Hunt, David and Kant, Sarina G and Kato, Mitsuhiro and Kayserili, Hülya and Kersseboom, Rogier and Kilic, Esra and Krajewska-Walasek, Malgorzata and Lammers, Kylin and Laulund, Lone W and Lederer, Damien and Lees, Melissa and López-González, Vanesa and Maas, Saskia and Mancini, Grazia M S and Marcelis, Carlo and Martinez, Francisco and Maystadt, Isabelle and McGuire, Marianne and McKee, Shane and Mehta, Sarju and Metcalfe, Kay and Milunsky, Jeff and Mizuno, Seiji and Moeschler, John B and Netzer, Christian and Ockeloen, Charlotte W and Oehl-Jaschkowitz, Barbara and Okamoto, Nobuhiko and Olminkhof, Sharon N M and Orellana, Carmen and Pasquier, Laurent and Pottinger, Caroline and Riehmer, Vera and Robertson, Stephen P and Roifman, Maian and Rooryck, Caroline and Ropers, Fabienne G and Rosello, Monica and Ruivenkamp, Claudia A L and Sagiroglu, Mahmut S and Sallevelt, Suzanne C E H and Calvo, Amparo Sanchis and Simsek-Kiper, Pelin O and Soares, Gabriela and Solaeche, Lucia and Sonmez, Fatma Mujgan and Splitt, Miranda and Steenbeek, Duco and Stegmann, Alexander P A and Stumpel, Constance T R M and Tanabe, Saori and Uctepe, Eyyup and Utine, G Eda and Veenstra-Knol, Hermine E and Venkateswaran, Sunita and Vilain, Catheline and Vincent-Delorme, Catherine and Vulto-van Silfhout, Anneke T and Wheeler, Patricia and Wilson, Golder N and Wilson, Louise C and Wollnik, Bernd and Kosho, Tomoki and Wieczorek, Dagmar and ...
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 01/2019, Volume 21, Issue 9, pp. 2160 - 2161
The original version of this Article contained an error in the spelling of the author Pleuntje J. van der Sluijs, which was incorrectly given as Eline (P. J.)... 
Journal Article