Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome by Courcet, Jean-Benoît, MD, Faivre, Laurence, MD, PhD, Michot, Caroline, MD, Burguet, Antoine, MD, PhD, Perez-Martin, Stéphanie, MD, Alix, Eudeline, MSc, Amiel, Jeanne, MD, PhD, Baumann, Clarisse, MD, Cordier, Marie-Pierre, MD, Cormier-Daire, Valérie, MD, PhD, Delrue, Marie Ange, MD, Gilbert-Dussardier, Brigitte, MD, PhD, Goldenberg, Alice, MD, Jacquemont, Marie-Line, MD, Jaquette, Aurélia, MD, Kayirangwa, Honorine, MSc, Lacombe, Didier, MD, PhD, Le Merrer, Martine, MD, PhD, Toutain, Annick, MD, PhD, Odent, Sylvie, MD, PhD, Moncla, Anne, MD, PhD, Pelet, Anna, PhD, Philip, Nicole, MD, PhD, Pinson, Lucille, MD, Poisson, Sylvain, MSc, Kim-Han, Le Quan Sang, MD, Roume, Joelle, MD, Sanchez, Elodie, MSc, Willems, Marjolaine, MD, Till, Marianne, MD, Vincent-Delorme, Catherine, MD, Mousson, Christiane, MD, PhD, Vinault, Sandrine, MSc, Binquet, Christine, MD, PhD, Huet, Frédéric, MD, PhD, Sarda, Pierre, MD, PhD, Salomon, Rémi, MD, PhD, Lyonnet, Stanislas, MD, PhD, Sanlaville, Damien, MD, PhD, Geneviève, David, MD, PhD

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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations by Lehman, N., Mazery, A.C., Visier, A., Baumann, C., Lachesnais, D., Capri, Y., Toutain, A., Odent, S., Mikaty, M., Goizet, C., Taupiac, E., Jacquemont, M.L., Sanchez, E., Schaefer, E., Gatinois, V., Faivre, L., Minot, D., Kayirangwa, H., Sang, K.‐H.L.Q., Boddaert, N., Bayard, S., Lacombe, D., Moutton, S., Touitou, I., Rio, M., Amiel, J., Lyonnet, S., Sanlaville, D., Picot, M.C., Geneviève, D.

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Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families by Cormier-Daire, V, Huber, C, Baujat, J, Caumes, R, Kayirangwa, H, Le Merrer, M, Le Quan Sang, KH, Munnich, A

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Finger creases lend a hand in Kabuki syndrome by Michot, Caroline, Corsini, Carole, Sanlaville, Damien, Baumann, Clarisse, Toutain, Annick, Philip, Nicole, Busa, Tiffany, Holder, Muriel, Faivre, Laurence, Odent, Sylvie, Delrue, Marie-Ange, Till, Marianne, Jacquemont, Marie-Line, Cordier, Marie-Pierre, Goldenberg, Alice, Sanchez, Elodie, Alix, Eudeline, Poisson, Sylvain, Kayirangwa, Honorine, Lacombe, Didier, Gilbert-Dussardier, Brigitte, Pelet, Anna, Roume, Joëlle, Jacquette, Aurélia, Isidor, Bertrand, Giuliano, Fabienne, Burglen, Lydie, Fradin, Mélanie, Schaefer, Elise, Alembick, Yves, Doray, Bérénice, Moncla, Anne, Héron, Delphine, Willems, Marjolaine, Pinson, Lucile, Le Quan Sang, Kim Hanh, Le Merrer, Martine, Cormier-Daire, Valérie, Sarda, Pierre, Amiel, Jeanne, Lyonnet, Stanislas, Geneviève, David

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