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by Schluth-Bolard, Caroline and Diguet, Flavie and Chatron, Nicolas and Rollat-Farnier, Pierre-Antoine and Bardel, Claire and Afenjar, Alexandra and Amblard, Florence and Amiel, Jeanne and Blesson, Sophie and Callier, Patrick and Capri, Yline and Collignon, Patrick and Cordier, Marie-Pierre and Coubes, Christine and Demeer, Benedicte and Chaussenot, Annabelle and Demurger, Florence and Devillard, Françoise and Doco-Fenzy, Martine and Dupont, Céline and Dupont, Jean-Michel and Dupuis-Girod, Sophie and Faivre, Laurence and Gilbert-Dussardier, Brigitte and Guerrot, Anne-Marie and Houlier, Marine and Isidor, Bertrand and Jaillard, Sylvie and Joly-Hélas, Géraldine and Kremer, Valérie and Lacombe, Didier and Le Caignec, Cédric and Lebbar, Aziza and Lebrun, Marine and Lesca, Gaetan and Lespinasse, James and Levy, Jonathan and Malan, Valérie and Mathieu-Dramard, Michele and Masson, Julie and Masurel-Paulet, Alice and Mignot, Cyril and Missirian, Chantal and Morice-Picard, Fanny and Moutton, Sébastien and Nadeau, Gwenaël and Pebrel-Richard, Céline and Odent, Sylvie and Paquis-Flucklinger, Véronique and Pasquier, Laurent and Philip, Nicole and Plutino, Morgane and Pons, Linda and Portnoï, Marie-France and Prieur, Fabienne and Puechberty, Jacques and Putoux, Audrey and Rio, Marlène and Rooryck-Thambo, Caroline and Rossi, Massimiliano and Sarret, Catherine and Satre, Véronique and Siffroi, Jean-Pierre and Till, Marianne and Touraine, Renaud and Toutain, Annick and Toutain, Jérome and Valence, Stéphanie and Verloes, Alain and Whalen, Sandra and Edery, Patrick and Tabet, Anne-Claude and Sanlaville, Damien
Journal of Medical Genetics, ISSN 0022-2593, 08/2019, Volume 56, Issue 8, pp. 526 - 535
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since... 
whole genome sequencing | structural variation | chromosomal rearrangements | position effect | intellectual disability | RECIPROCAL FUSION TRANSCRIPTS | MICROHOMOLOGY | DE-NOVO | MECHANISM | TRANSLOCATIONS | GENETICS & HEREDITY | DISRUPTIONS | Life Sciences | Genetics | Human genetics
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Journal of Cell Science, ISSN 0021-9533, 2014, Volume 127, Issue 15, pp. 2825 - 2837
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Journal of Cell Science, ISSN 0021-9533, 08/2014, Volume 127, Issue 15, pp. e1.1 - e1
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Scientific Reports, ISSN 2045-2322, 12/2017, Volume 7, Issue 1, pp. 4546 - 14
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Occupational Ergonomics, ISSN 1359-9364, 2018, Volume 13, Issue 1, pp. S115 - S126
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Child Psychiatry & Human Development, ISSN 0009-398X, 6/2018, Volume 49, Issue 3, pp. 434 - 442
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Developmental Biology, ISSN 0012-1606, 07/2009, Volume 331, Issue 2, pp. 479 - 480
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Developmental Dynamics, ISSN 1058-8388, 01/2017, Volume 246, Issue 1, pp. 72 - 82
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