by San Luciano, M, Oehrn, C R, Wang, S S, Tolmie, J S, Wiltshire, A, Graff, R E, Zhu, J, Starr, P A
Published in BMC neurology (29.04.2024)

by Kmoch, S., Majewski, J., Ramamurthy, V., Cao, S., Fahiminiya, S., Ren, H., MacDonald, I. M., Lopez, I., Sun, V., Keser, V., Khan, A., Stránecký, V., Hartmannová, H., Přistoupilová, A., Hodaňová, K., Piherová, L., Kuchař, L., Baxová, A., Chen, R., Barsottini, O. G. P., Pyle, A., Griffin, H., Splitt, M., Sallum, J., Tolmie, J. L., Sampson, J. R., Chinnery, P., Banin, E., Sharon, D., Dutta, S., Grebler, R., Helfrich-Foerster, C., Pedroso, J. L., Kretzschmar, D., Cayouette, M., Koenekoop, R. K.
Published in Nature communications (09.01.2015)

by Laugel, V, Dalloz, C, Durand, M, Sauvanaud, F, Kristensen, U, Vincent, M.C, Pasquier, L, Odent, S, Cormier-Daire, V, Gener, B, Tobias, E.S, Tolmie, J.L, Martin-Coignard, D, Drouin-Garraud, V, Heron, D, Journel, H, Raffo, E, Vigneron, J, Lyonnet, S, Murday, V, Gubser-Mercati, D, Funalot, B, Brueton, L, Sanchez del Pozo, J, Muñoz, E, Gennery, A.R, Salih, M, Noruzinia, M, Prescott, K, Ramos, L, Stark, Z, Fieggen, K, Chabrol, B, Sarda, P, Edery, P, Bloch-Zupan, A, Fawcett, H, Pham, D, Egly, J.M, Lehmann, A.R, Sarasin, A, Dollfus, H
Published in Human mutation (01.02.2010)

by McDonald, L, Rennie, A, Tolmie, J, Galloway, P, McWilliam, R
Published in Archives of Disease in Childhood (01.08.2006)

by Archer, H L, Evans, J, Edwards, S, Colley, J, Newbury-Ecob, R, O’Callaghan, F, Huyton, M, O’Regan, M, Tolmie, J, Sampson, J, Clarke, A, Osborne, J
Published in Journal of medical genetics (01.09.2006)

by Banka, S, Howard, E, Bunstone, S, Chandler, KE, Kerr, B, Lachlan, K, McKee, S, Mehta, SG, Tavares, ALT, Tolmie, J, Donnai, D
Published in Clinical genetics (01.05.2013)

by Laugel, V, Dalloz, C, Tobias, E S, Tolmie, J L, Martin-Coignard, D, Drouin-Garraud, V, Valayannopoulos, V, Sarasin, A, Dollfus, H
Published in Journal of medical genetics (01.09.2008)

by Briggs, T.A., Abdel-Salam, G.M.H., Balicki, M., Baxter, P., Bertini, E., Bishop, N., Browne, B.H., Chitayat, D., Chong, W.K., Eid, M.M., Halliday, W., Hughes, I., Klusmann-Koy, A., Kurian, M., Nischal, K.K., Rice, G.I., Stephenson, J.B.P., Surtees, R., Talbot, J.F., Tehrani, N.N., Tolmie, J.L., Toomes, C., van der Knaap, M.S., Crow, Y.J.
Published in American journal of medical genetics. Part A (15.01.2008)

by Crow, Y J, McMenamin, J, Haenggeli, C A, Hadley, D M, Tirupathi, S, Treacy, E P, Zuberi, S M, Browne, B H, Tolmie, J L, Stephenson, J B P
Published in Neuropediatrics (01.02.2004)

by Christensen, JH, Kvistgaard, H, Knudsen, J, Shaikh, G, Tolmie, J, Cooke, S, Pedersen, S, Corydon, TJ, Gregersen, N, Rittig, S
Published in Clinical genetics (01.01.2013)

by Marsh, Debbie J., Kum, Jennifer B., Lunetta, Kathryn L., Bennett, Michael J., Gorlin, Robert J., Ahmed, S. Faisal, Bodurtha, Joann, Crowe, Carol, Curtis, Mary A., Dasouki, Majed, Dunn, Teresa, Feit, Howard, Geraghty, Michael T., Graham, John M., Hodgson, Shirley V., Hunter, Alasdair, Korf, Bruce R., Manchester, David, Miesfeldt, Susan, Murday, Victoria A., Nathanson, Katherine L., Parisi, Melissa, Pober, Barbara, Romano, Corrado, Tolmie, John L., Trembath, Richard, Winter, Robin M., Zackai, Elaine H., Zori, Roberto T., Weng, Liang-Ping, Dahia, Patricia L. M., Eng, Charis
Published in Human molecular genetics (01.08.1999)

by Møller, R. S., Jensen, L. R., Maas, S. M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C. L. M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rødningen, O. K., de Leeuw, N., Yntema, H. G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A. C., Lund, A. M., Hjalgrim, H., Kuss, A. W., Tommerup, N., Ullmann, R., de Brouwer, A. P. M., Strømme, P., Kjaergaard, S., Tümer, Z., Kleefstra, T.
Published in Human genetics (01.05.2014)

by Zuberi, S. M., Eunson, L. H., Spauschus, A., De Silva, R., Tolmie, J., Wood, N. W., McWilliam, R. C., Stephenson, J. P. B., Kullmann, D. M., Hanna, M. G.
Published in Brain (London, England : 1878) (01.05.1999)

by Mansour, S, Offiah, A C, McDowall, S, Sim, P, Tolmie, J, Hall, C
Published in Journal of medical genetics (01.08.2002)

by Phillips, H.A., Scheffer, I.E., Crossland, K.M., Bhatia, K.P., Fish, D.R., Marsden, C.D., Howell, S.J.L., Stephenson, J.B.P., Tolmie, J., Plazzi, G., Eeg-Olofsson, O., Singh, R., Lopes-Cendes, I., Andermann, E., Andermann, F., Berkovic, S.F., Mulley, J.C.
Published in American journal of human genetics (01.10.1998)

by Tolmie, J.
Published in Journal of medical genetics (01.10.2002)

by Willemsen, MH, Beunders, G, Callaghan, M, de Leeuw, N, Nillesen, WM, Yntema, HG, van Hagen, JM, Nieuwint, AWM, Morrison, N, Keijzers-Vloet, STM, Hoischen, A, Brunner, HG, Tolmie, J, Kleefstra, T
Published in Clinical genetics (01.07.2011)

by Tobias, E S, Morrison, N, Whiteford, M L, Tolmie, J L
Published in Archives of disease in childhood (01.12.1999)

by Sharkey, F.H., Morrison, N., Murray, R., Iremonger, J., Stephen, J., Maher, E., Tolmie, J., Jackson, A.P.
Published in Cytogenetic and genome research (01.01.2009)

by Tobias, E S, Tolmie, J L, Stephenson, J B P
Published in Archives of disease in childhood (01.08.2002)