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Lead researchers
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Deborah J.g. Mackay, Jet Bliek, Maria Paola Lombardi, Silvia Russo, Luciano Calzari, Sara Guzzetti, Claudia Izzi, Angelo Selicorni, Daniela Melis, Karen Temple, Eamonn Maher, Frédéric Brioude, Irène Netchine & Thomas Eggermann,
2019, Genetics Research, 101, e3
Type: article
Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo, Louise E. Docherty, Julia Kolarova, Christopher Schroeder, Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L. Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L.S. Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G. Mehta, Gareth Baynam, Julian P. Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, Isabel Karen Temple, Thomas Eggermann & Deborah J.G. Mackay,
2018, Journal of Medical Genetics, 55(7), 497-594
Type: article
Frédéric Brioude, Jennifer M. Kalish, Alessandro Mussa, Alison C. Foster, Jet Bliek, Giovanni Battista Ferrero, Susanne E. Boonen, Trevor Cole, Robert Baker, Monica Bertoletti, Guido Cocchi, Carole Coze, Maurizio De Pellegrin, Khalid Hussain, Abdulla Ibrahim, Mark D. Kilby, Malgorzata Krajewska-Walasek, Christian P. Kratz, Edmund J. Ladusans, Pablo Lapunzina, Yves Le Bouc, Saskia M. Maas, Fiona Macdonald, Katrin Õunap, Licia Peruzzi, Sylvie Rossignol, Silvia Russo, Caroleen Shipster, Agata Skórka, Katrina Tatton-Brown, Jair Tenorio, Chiara Tortora, Karen Grønskov, Irène Netchine, Raoul C. Hennekam, Dirk Prawitt, Zeynep Tümer, Thomas Eggermann, Deborah J.G. Mackay, Andrea Riccio & Eamonn R. Maher,
2018, Nature Reviews Endocrinology, 14(4), 229-249
Type: article
Deborah J.G. Mackay & Isabel Temple,
2017, European Journal of Medical Genetics, 60(11), 618-626
Type: article
E. Wakeling, F. Brioude, K. Lokulo-Sodipe, S.M. O'Connell, J. Salem, J. Bliek, A. Canton, K.H. Chrzanowska, J.H. Davies, R. Dias, B. Dubern, M. Elbracht, E. Giabicani, A. Grimberg, K. Groenskov, A. Hokken-Koelega, A.A. Jorge, M. Kagami, A. Linglart, M. Maghnie, K. Mohnike, D. Monk, G. Moore, P.G. Murray, T. Ogata, I. Oliver Petit, S. Russo, E. Said, M. Toumba, Z. Tumer, G. Binder, T. Eggermann, M.D. Harbison, I.K. Temple, D.J.G. Mackay & I. Netchine,
2017, Nature Reviews Endocrinology, 13(2), 105-124
Type: article