Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases von Jedraszak, Guillaume, Jobic, Florence, Receveur, Aline, Bilan, Frédéric, Gilbert‐Dussardier, Brigitte, Tiffany, Busa, Missirian, Chantal, Willems, Marjolaine, Odent, Sylvie, Lucas, Josette, Dubourg, Christele, Schaefer, Elise, Scheidecker, Sophie, Lespinasse, James, Goldenberg, Alice, Guerrot, Anne‐Marie, Joly‐Helas, Géraldine, Chambon, Pascal, Le Caignec, Cédric, David, Albert, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Amblard, Florence, Harbuz, Radu, Sanlaville, Damien, Till, Marianne, Vincent‐Delorme, Catherine, Colson, Cindy, Andrieux, Joris, Naudion, Sophie, Toutain, Jérome, Rooryck, Caroline, Fréminville, Bénédicte, Prieur, Fabienne, Daire, Valérie Cormier, Amram, Daniel, Kleinfinger, Pascale, Schulze, Matthias B., Raabe‐Meyer, Gisela, Courage, Carolina, Lemke, Johannes, Stefanou, Eunice G., Loretta, Thomaidis, Emmanouil, Manolakos, Tzeli, Sophia Kitsiou, Sodowska, Henryka, Anderson, Jasen, Nandini, Adayapalam, Copin, Henri, Garçon, Loïc, Liehr, Thomas, Morin, Gilles

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Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe von Stumm, Markus, Entezami, Michael, Haug, Karsten, Blank, Cornelia, Wüstemann, Max, Schulze, Bernt, Raabe-Meyer, Gisela, Hempel, Maja, Schelling, Markus, Ostermayer, Eva, Langer-Freitag, Sabine, Burkhardt, Tilo, Zimmermann, Roland, Schleicher, Tina, Weil, Bernd, Schöck, Ulrike, Smerdka, Patricia, Grömminger, Sebastian, Kumar, Yadhu, Hofmann, Wera

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Molecular Karyotyping as a Relevant Diagnostic Tool in Children with Growth Retardation with Silver-Russell Features von Spengler, Sabrina, MS, Begemann, Matthias, PhD, Ortiz Brüchle, Nadina, DVM, Baudis, Michael, Dr Med, Denecke, Bernd, PhD, Kroisel, Peter Michael, Oehl-Jaschkowitz, Barbara, Dr Med, Schulze, Bernd, Dr Med, Raabe-Meyer, Gisela, Dr Med, Spaich, Christiane, Dr Med, Blümel, Peter, Dr Med, Jauch, Anna, PhD, Moog, Ute, Dr Med, Zerres, Klaus, MD, Eggermann, Thomas, PhD

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Diagnostic accuracy of random massively parallel sequencing for non-invasive prenatal detection of common autosomal aneuploidies: a collaborative study in Europe: Massively paralle... von Stumm, Markus, Entezami, Michael, Haug, Karsten, Blank, Cornelia, Wüstemann, Max, Schulze, Bernt, Raabe-Meyer, Gisela, Hempel, Maja, Schelling, Markus, Ostermayer, Eva, Langer-Freitag, Sabine, Burkhardt, Tilo, Zimmermann, Roland, Schleicher, Tina, Weil, Bernd, Schöck, Ulrike, Smerdka, Patricia, Grömminger, Sebastian, Kumar, Yadhu, Hofmann, Wera

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