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European Journal of Human Genetics, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 525 - 534
Journal Article
by Bertolotto, Corine and Lesueur, Fabienne and Giuliano, Sandy and Strub, Thomas and De Lichy, Mahaut and Bille, Karine and Dessen, Philippe and D'Hayer, Benoit and Mohamdi, Hamida and Remenieras, Audrey and Maubec, Eve and De La Fouchardière, Arnaud and Molinié, Vincent and Vabres, Pierre and Dalle, Stéphane and Poulalhon, Nicolas and Martin-Denavit, Tanguy and Thomas, Luc and Andry-Benzaquen, Pascale and Dupin, Nicolas and Boitier, Fraņoise and Rossi, Annick and Perrot, Jean-Luc and Labeille, Bruno and Robert, Caroline and Escudier, Bernard and Caron, Olivier and Brugières, Laurence and Saule, Simon and Gardie, Betty and Gad, Sophie and Richard, Stéphane and Couturier, Jérôme and Teh, Bin Tean and Ghiorzo, Paola and Pastorino, Lorenza and Puig, Susana and Badenas, Celia and Olsson, Hakan and Ingvar, Christian and Rouleau, Etienne and Lidereau, Rosette and Bahadoran, Philippe and Vielh, Philippe and Corda, Eve and Blanché, Hélène and Zelenika, Diana and Galan, Pilar and Aubin, Fraņois and Bachollet, Bertrand and Becuwe, Céline and Berthet, Pascaline and Jean Bignon, Yves and Bonadona, Valérie and Bonafe, Jean-Louis and Bonnet-Dupeyron, Marie-Noëlle and Cambazard, Fréderic and Chevrant-Breton, Jacqueline and Coupier, Isabelle and Dalac, Sophie and Demange, Liliane and D'Incan, Michel and Dugast, Catherine and Faivre, Laurence and Vincent-Fétita, Lynda and Gauthier-Villars, Marion and Gilbert, Brigitte and Grange, Florent and Grob, Jean-Jacques and Humbert, Philippe and Janin, Nicolas and Joly, Pascal and Kerob, Delphine and Lasset, Christine and Leroux, Dominique and Levang, Julien and Limacher, Jean-Marc and Livideanu, Cristina and Longy, Michel and Lortholary, Alain and Stoppa-Lyonnet, Dominique and Mansard, Sandrine and Mansuy, Ludovic and Marrou, Karine and Matéus, Christine and Maugard, Christine and Meyer, Nicolas and Nogues, Catherine and Souteyrand, Pierre and Venat-Bouvet, Laurence and Zattara, Hélène and Chaudru, Valérie and Lenoir, Gilbert M and Lathrop, Mark and Davidson, Irwin and Avril, Marie-Fraņoise and Demenais, Florence and Ballotti, Robert and Bressac-De Paillerets, Brigitte and French Familial Melanoma Study Grp and French Familial Melanoma Study Group and The French Familial Melanoma Study Group and Surgery (Lund) and Lund University and Cancer Epidemiology and Cancerepidemiologi and EpiHealth: Epidemiology for Health and Kirurgi, Lund and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet
Nature, ISSN 0028-0836, 12/2011, Volume 480, Issue 7375, pp. 94 - 98
Journal Article
Genome Research, ISSN 1088-9051, 05/2010, Volume 20, Issue 5, pp. 589 - 599
Journal Article
Journal Article
Journal Article
by Aad, G and Abajyan, T and Abbott, B and Abdallah, J and Abdel Khalek, S and Abdelalim, A.A and Abdinov, O and Aben, R and Abi, B and Abolins, M and AbouZeid, O.S and Abramowicz, H and Abreu, H and Acharya, B.S and Adamczyk, L and Adams, D.L and Addy, T.N and Adelman, J and Adomeit, S and Adragna, P and Adye, T and Aefsky, S and Aguilar-Saavedra, J.A and Agustoni, M and Aharrouche, M and Ahlen, S.P and Ahles, F and Ahmad, A and Ahsan, M and Aielli, G and Akdogan, T and Åkesson, T.P.A and Akimoto, G and Akimov, A.V and Alam, M.A and Alam, M.S and Albert, J and Albrand, S and Aleksa, M and Aleksandrov, I.N and Alessandria, F and Alexa, C and Alexander, G and Alexandre, G and Alexopoulos, T and Alhroob, M and Aliev, M and Alimonti, G and Alison, J and Allbrooke, B.M.M and Allport, P.P and Allwood-Spiers, S.E and Almond, J and Aloisio, A and Alon, R and Alonso, F and Alonso, A and Altheimer, A and Alvarez Gonzalez, B and Alviggi, M.G and Amako, K and Amelung, C and Ammosov, V.V and Amor Dos Santos, S.P and Amorim, A and Amram, N and Anastopoulos, C and Ancu, L.S and Andari, N and Andeen, T and Anders, C.F and Anders, G and Anderson, K.J and Andreazza, A and Andrei, V and Andrieux, M.-L and Anduaga, X.S and Angelidakis, S and Anger, P and Angerami, A and Anghinolfi, F and Anisenkov, A and Anjos, N and Annovi, A and Antonaki, A and Antonelli, M and Antonov, A and Antos, J and Anulli, F and Aoki, M and Aoun, S and Aperio Bella, L and Apolle, R and Arabidze, G and Aracena, I and Arai, Y and Arce, A.T.H and Arfaoui, S and Arguin, J.-F and Arik, M and ... and ATLAS Collaboration and BROOKHAVEN NATIONAL LABORATORY (BNL) and Partikel- och astropartikelfysik and Skolan för teknikvetenskap (SCI) and KTH and Fysik
Physics Letters B, ISSN 0370-2693, 09/2012, Volume 716, Issue 1, pp. 1 - 29
Journal Article
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
Journal Article