IL11RA‐related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences by Brischoux‐Boucher, E., Trimouille, A., Baujat, G., Goldenberg, A., Schaefer, E., Guichard, B., Hannequin, P., Paternoster, G., Baer, S., Cabrol, C., Weber, E., Godfrin, G., Lenoir, M., Lacombe, D., Collet, C., Van Maldergem, L.

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GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer‐Rokitansky‐Kuster‐Hauser syndrome by Jacquinet, Adeline, Boujemla, Bouchra, Fasquelle, Corinne, Thiry, Jerôme, Josse, Claire, Lumaka, Aimé, Brischoux‐Boucher, Elise, Dubourg, Christèle, David, Véronique, Pasquier, Laurent, Lehman, Anna, Morcel, Karine, Guerrier, Daniel, Bours, Vincent

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Epileptic encephalopathy due to BRAT1 pathogenic variants: report of eight new patients by Piard, J., Moris-Rosendahl, D. J., Putoux, A., Delplancq, G., Cabrol, C., Goffeney, J. Belleville, Pasquier, L., Brischoux-Boucher, E., Wollnik, B., Yigit, G., Albrecht, B., Lesca, G., Villard, Laurent, Edery, P., Sanlaville, D., Streichenberger, N., Altuzarra, C., Harms, F. L., Kutsche, K., van Maldergem, L.

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The phenotypic spectrum of WWOX-related Epileptic Encephalopathy: 20 additional cases and review of the literature by Piard, J., Hawkes, L., Milh, M., Villard, Laurent, Borgatti, R., Fradin, M., Capri, Y., Heron, D., Nougues, M., Nava, C., Arsene, O. Tarta, Shears, D., Sogawa, Y., Johnson, D., Firth, H., Vasudevan, P., Jones, G., Nguyen-Morel, M., Busa, T., Roubertie, A., Born, M. van Den, Koenig, M., Brischoux-Boucher, E., Mignot, C., Kini, U., Philippe, C.

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Mutations gain de fonction hétérozygotes de JAK1 : une cause rare et traitable de dermatite atopique sévère by Puzenat, E., Mathevet, R., Brischoux-Boucher, E., Quartier, P., Bustamante, J., Hovnanian, A., Voidey, M., Aubin, F.

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The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome by Pisan, Elise, De Luca, Chiara, Brancati, Francesco, Sanchez Russo, Rossana, Li, Dong, Bhoj, Elizabeth, Wenger, Tara, Marwaha, Ashish, Johnson, Nicole, Beneteau, Claire, Brischoux-Boucher, Elise, Houge, Gunnar, Paulsen, Julie, Hammer, Trine Bjørg, Ek, Jakob, Schweitzer, Daniela, Russell, Bianca E, Dutra-Clarke, Marina, Nelson, Stanley, Douine, Emilie D, Corona, Rosario I, Dudding, Tracy, Thomson, Hannah, Low, Karen, Belnap, Newell, Iascone, Maria, Priolo, Manuela, Carli, Diana, Mussa, Alessandro, Bijlsma, Emilia K, Kopp, Nathan, Jais, Jean-Philippe, Amiel, Jeanne, Gordon, Christopher T

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