학술논문

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
Document Type
Article
Author
Jackson, A.Jones, E.A.Lovell, S.Banka, S.Chandler, K.E.Orr, D.Lin, S.-J.Loveless, M.Petree, C.Varshney, G.K.Moss, C.Haider, Z.Ryan, G.Holden, S.Harrison, M.Burrows, N.Jones, W.D.Stewart, H.Low, K.Donnelly, D.Drosou, K.Ambrose, J.C.Arumugam, P.Bevers, R.Bleda, M.Boardman-Pretty, F.Boustred, C.R.Brittain, H.Brown, M.A.Caulfield, M.J.Chan, G.C.Giess, A.Griffin, J.N.Hamblin, A.Henderson, S.Hubbard, T.J.P.Jackson, R.Jones, L.J.Kasperaviciute, D.Kayikci, M.Kousathanas, A.Lahnstein, L.Lakey, A.Leigh, S.E.A.Leong, I.U.S.Lopez, F.J.Maleady-Crowe, F.McEntagart, M.Minneci, F.Mitchell, J.Moutsianas, L.Mueller, M.Murugaesu, N.Need, A.C.O‘Donovan, P.Odhams, C.A.Patch, C.Perez-Gil, D.Pereira, M.B.Pullinger, J.Rahim, T.Rendon, A.Rogers, T.Savage, K.Sawant, K.Scott, R.H.Siddiq, A.Sieghart, A.Smith, S.C.Sosinsky, A.Stuckey, A.Tanguy, M.Taylor Tavares, A.L.Thomas, E.R.A.Thompson, S.R.Tucci, A.Welland, M.J.Williams, E.Witkowska, K.Wood, S.M.Zarowiecki, M.Riess, O.Haack, T.B.Graessner, H.Zurek, B.Ellwanger, K.Ossowski, S.Demidov, G.Sturm, M.Schulze-Hentrich, J.M.Schüle, R.Kessler, C.Wayand, M.Synofzik, M.Wilke, C.Traschütz, A.Schöls, L.Hengel, H.Heutink, P.Brunner, H.Scheffer, H.Hoogerbrugge, N.Hoischen, A.’t Hoen, P.A.C.Vissers, L.E.L.M.Gilissen, C.Steyaert, W.Sablauskas, K.de Voer, R.M.Kamsteeg, E.-J.van de Warrenburg, B.van Os, N.Paske, I.T.Janssen, E.de Boer, E.Steehouwer, M.Yaldiz, B.Kleefstra, T.Brookes, A.J.Veal, C.Gibson, S.Wadsley, M.Mehtarizadeh, M.Riaz, U.Warren, G.Dizjikan, F.Y.Shorter, T.Töpf, A.Straub, V.Bettolo, C.M.Specht, S.Clayton-Smith, J.Alexander, E.Faivre, L.Thauvin, C.Vitobello, A.Denommé-Pichon, A.-S.Duffourd, Y.Tisserant, E.Bruel, A.-L.Peyron, C.Pélissier, A.Beltran, S.Gut, I.G.Laurie, S.Piscia, D.Matalonga, L.Papakonstantinou, A.Bullich, G.Corvo, A.Garcia, C.Fernandez-Callejo, M.Hernández, C.Picó, D.Paramonov, I.Lochmüller, H.Gumus, G.Bros-Facer, V.Rath, A.Hanauer, M.Olry, A.Lagorce, D.Havrylenko, S.Izem, K.Rigour, F.Stevanin, G.Durr, A.Davoine, C.-S.Guillot-Noel, L.Heinzmann, A.Coarelli, G.Bonne, G.Evangelista, T.Allamand, V.Nelson, I.Ben Yaou, R.Metay, C.Eymard, B.Cohen, E.Atalaia, A.Stojkovic, T.Macek, M.Turnovec, M.Thomasová, D.Kremliková, R.P.Franková, V.Havlovicová, M.Kremlik, V.Parkinson, H.Keane, T.Spalding, D.Senf, A.Robinson, P.Danis, D.Robert, G.Costa, A.Patch, C.Hanna, M.Houlden, H.Reilly, M.Vandrovcova, J.Muntoni, F.Zaharieva, I.Sarkozy, A.Timmerman, V.Baets, J.Van de Vondel, L.Beijer, D.de Jonghe, P.Nigro, V.Banfi, S.Torella, A.Musacchia, F.Piluso, G.Ferlini, A.Selvatici, R.Rossi, R.Neri, M.Aretz, S.Spier, I.Sommer, A.K.Peters, S.Oliveira, C.Pelaez, J.G.Matos, A.R.José, C.S.Ferreira, M.Gullo, I.Fernandes, S.Garrido, L.Ferreira, P.Carneiro, F.Swertz, M.A.Johansson, L.van der Velde, J.K.van der Vries, G.Neerincx, P.B.Roelofs-Prins, D.Köhler, S.Metcalfe, A.Verloes, A.Drunat, S.Rooryck, C.Trimouille, A.Castello, R.Morleo, M.Pinelli, M.Varavallo, A.De la Paz, M.P.Sánchez, E.B.Martín, E.L.Delgado, B.M.Alonso García de la Rosa, F.J.Ciolfi, A.Dallapiccola, B.Pizzi, S.Radio, F.C.Tartaglia, M.Renieri, A.Benetti, E.Balicza, P.Molnar, M.J.Maver, A.Peterlin, B.Münchau, A.Lohmann, K.Herzog, R.Pauly, M.Macaya, A.Marcé-Grau, A.Osorio, A.N.Natera de Benito, D.Thompson, R.Polavarapu, K.Beeson, D.Cossins, J.Rodriguez Cruz, P.M.Hackman, P.Johari, M.Savarese, M.Udd, B.Horvath, R.Capella, G.Valle, L.Holinski-Feder, E.Laner, A.Steinke-Lange, V.Schröck, E.Rump, A.
Source
In: Human Genetics and Genomics Advances. (Human Genetics and Genomics Advances, 13 April 2023, 4(2))
Subject
Language
English
ISSN
26662477