Experimental Designs for Array Comparative Genomic Hybridization Technology von McDonnell, S.K., Riska, S.M., Klee, E.W., Thorland, E.C., Kay, N.E., Thibodeau, S.N., Parker, A.S., Eckel-Passow, J.E.

Volltext

The Undiagnosed Diseases Network International: Five years and more von Taruscio, D., Baynam, G., Cederroth, H., Groft, S.C., Klee, E.W., Kosaki, K., Lasko, P., Melegh, B., Riess, O., Salvatore, M., Gahl, W.A.

Volltext

Leigh-like syndrome as a presentation of biallelic variants in DNAJC30 gene with predominant putamen degeneration and limb dystonia von Krygier, M., Zawadzka, M., Rutkowska, K., Sławek, J., Machado Bressan Wilke, M. Vernet, Klee, E.W., Schimmenti, L.A., Płoski, R., Mazurkiewicz-Bełdzińska, M.

Volltext

Identifying secretomes in people, pufferfish and pigs von Klee, E.W, Carlson, D.F, Fahrenkrug, S.C, Ekker, S.C, Ellis, L.B.M

Volltext

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway von Delanne, J., Lecat, M., Blackburn, P.R., Klee, E.W., Stumpel, C.T.R.M., Stegmann, S., Stevens, S.J.C., Nava, C., Heron, D., Keren, B., Mahida, S., Naidu, S., Babovic-Vuksanovic, D., Herkert, J.C., Torring, P.M., Kibaek, M., Bie, I. de, Pfundt, R., Hendriks, Y.M.C., Ousager, L.B., Bend, R., Warren, H., Skinner, S.A., Lyons, M.J., Poe, C., Chevarin, M., Jouan, T., Garde, A., Thomas, Q., Kuentz, P., Tisserant, E., Duffourd, Y., Philippe, C., Faivre, L., Thauvin-Robinet, C.

Volltext bestellen

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome von Cousin, M.A., Veale, E.L., Dsouza, N.R., Tripathi, S., Holden, R.G., Arelin, M., Beek, G., Bekheirnia, M.R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Carmichael, J., Courtin, T., Cogne, B., Dabaj, I., Doummar, D., Fazilleau, L., Ferlini, A., Gavrilova, R.H., Jr, J.M.G., Haack, T.B., Juusola, J., Kant, S.G., Kayani, S., Keren, B., Ketteler, P., Klockner, C., Koopmann, T.T., Kruisselbrink, T.M., Kuechler, A., Lambert, L., Latypova, X., Lebel, R.R., Leduc, M.S., Leonardi, E., Lewis, A.M., Liew, W., Machol, K., Mardini, S., McWalter, K., Mignot, C., McLaughlin, J., Murgia, A., Narayanan, V., Nava, C., Neuser, S., Nizon, M., Ognibene, D., Park, J., Platzer, K., Poirsier, C., Radtke, M., Ramsey, K., Runke, C.K., Sacoto, M.J.G., Scaglia, F., Shinawi, M., Spranger, S., Tan, E.S., Taylor, J., Trentesaux, A.S., Vairo, F., Willaert, R., Zadeh, N., Urrutia, R., Babovic-Vuksanovic, D., Zimmermann, M.T., Mathie, A., Klee, E.W.

Volltext bestellen

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature von Rots, D., Chater-Diehl, E., Dingemans, A.J.M., Goodman, S.J., Siu, M.T., Cytrynbaum, C., Choufani, S., Hoang, N., Walker, S., Awamleh, Z., Charkow, J., Meyn, S., Pfundt, R., Rinne, T., Gardeitchik, T., Vries, B.B.A. de, Deden, A.C., Leenders, E., Kwint, M., Stumpel, C.T.R.M., Stevens, S.J.C., Vermeulen, J.R., Harssel, J.V.T. van, Bosch, D.G.M., Gassen, K.L.I. van, Binsbergen, E. van, Geus, C.M. de, Brackel, H., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Crunk, A., Folk, L., Wentzensen, I.M., Yang, H., Zou, F.G., Millan, F., Person, R., Xie, Y.L., Liu, S.X., Ousager, L.B., Larsen, M., Schultz-Rogers, L., Morava, E., Klee, E.W., Berry, I.R., Campbell, J., Lindstrom, K., Pruniski, B., Neumeyer, A.M., Radley, J.A., Phornphutkul, C., Schmidt, B., Wilson, W.G., Ounap, K., Reinson, K., Pajusalu, S., Haeringen, A. van, Ruivenkamp, C., Cuperus, R., Santos-Simarro, F., Palomares-Bralo, M., Pacio-Miguez, M., Ritter, A., Bhoj, E., Tonne, E., Tveten, K., Cappuccio, G., Brunetti-Pierri, N., Rowe, L., Bunn, J., Saenz, M., Platzer, K., Mertens, M., Caluseriu, O., Nowaczyk, M.J.M., Cohn, R.D., Kannu, P., Alkhunaizi, E., Chitayat, D., Scherer, S.W., Brunner, H.G., Vissers, L.E.L.M., Kleefstra, T., Koolen, D.A., Weksberg, R.

Volltext bestellen

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency von Zawerton, A., Mignot, C., Sigafoos, A., Blackburn, P.R., Haseeb, A., McWalter, K., Ichikawa, S., Nava, C., Keren, B., Charles, P., Marey, I., Tabet, A.C., Levy, J., Perrin, L., Hartmann, A., Lesca, G., Schluth-Bolard, C., Monin, P., Dupuis-Girod, S., Sacoto, M.G.J., Schnur, R.E., Zhu, Z.H., Poisson, A., Chehadeh, S. el, Alembik, Y., Bruel, A.L., Lehalle, D., Nambot, S., Moutton, S., Odent, S., Jaillard, S., Dubourg, C., Hilhorst-Hofstee, Y., Barbaro-Dieber, T., Ortega, L., Bhoj, E.J., Masser-Frye, D., Bird, L.M., Lindstrom, K., Ramsey, K.M., Narayanan, V., Fassi, E., Willing, M., Cole, T., Salter, C.G., Akilapa, R., Vandersteen, A., Canham, N., Rump, P., Gerkes, E.H., Wassink-Ruiter, J.K.S., Bijlsma, E., Hoffer, M.J.V., Vargas, M., Wojcik, A., Cherik, F., Francannet, C., Rosenfeld, J.A., Machol, K., Scott, D.A., Bacino, C.A., Wang, X., Clark, G.D., Bertoli, M., Zwolinski, S., Thomas, R.H., Akay, E., Chang, R.H.C., Bressi, R., Russo, R.S., Srour, M., Russell, L., Goyette, A.M.E., Dupuis, L., Mendoza-Londono, R., Karimov, C., Joseph, M., Nizon, M., Cogne, B., Kuechler, A., Piton, A., Klee, E.W., Lefebvre, V., Clark, K.J., Depienne, C.

Volltext bestellen

On the correlation of mechanical and physical properties of 6061-T6 and 7249-T76 aluminum alloys von Oppenheim, T., Tewfic, S., Scheck, T., Klee, V., Lomeli, S., Dahir, W., Youngren, P., Aizpuru, N., Clark, R., Lee, E.W., Ogren, J., Es-Said, O.S.

Volltext

T-DNA of Agrobacterium tumefaciens encodes an enzyme of cytokinin biosynthesis von Akiyoshi, D. E., Klee, H., Amasino, R. M., Nester, E. W., Gordon, M. P.

Volltext

Analysis of Agrobacterium tumefaciens virulence mutants in leaf discs von Horsch, R.B, Klee, H.J, Stachel, S, Winans, S.C, Nester, E.W, Rogers, S.G, Fraley, R.T

Volltext

Vectors for transformation of higher plants von Klee, H.J, Yanofsky, M.F, Nester, E.W

Volltext