Large scale experimental investigation on storage tank breathing during sudden cold heavy rain event

Autor: Schmidt, N., Denecke, J., Schmidt, J., Davies, M., Heidermann, T.

Publikováno v: In Journal of Loss Prevention in the Process Industries August 2022 78

INPP4A-Related Genetic and Phenotypic Spectrum and Functional Relevance of Subcellular Targeting of INPP4A Isoforms.

Autor: Hecher, L., Harms, F. L., Lisfeld, J., Alawi, M., Denecke, J., Kutsche, K.

Publikováno v: Neuropediatrics; 2023 Supplement 1, Vol. 54, pS1-S32, 32p

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Autor: Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K.M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G.M.S., Cappuccio, G., Brunetti-Pierri, N., Kortum, F., Hempel, M., Denecke, J., Lehman, A., Kleefstra, T., Stuurman, K.E., Wilke, M., Thompson, M.L., Bebin, E.M., Bijlsma, E.K., Hoffer, M.J.V., Peeters-Scholte, C., Slavotinek, A., Weiss, W.A., Yip, T., Hodoglugil, U., Whittle, A., Monda, J., Neira, J., Yang, S., Kirby, A., Pinz, H., Lechner, R., Sleutels, F., Helbig, I., McKeown, S., Helbig, K., Willaert, R., Juusola, J., Semotok, J., Hadonou, M., Short, J., Yachelevich, N., Lala, S., Fernandez-Jaen, A., Pelayo, J.P., Klockner, C., Kamphausen, S.B., Abou Jamra, R., Arelin, M., Innes, A.M., Niskakoski, A., Amin, S., Williams, M., Evans, J., Smithson, S., Smedley, D., Burca, A., Kini, U., Delatycki, M.B., Gallacher, L., Yeung, A., Pais, L., Field, M., Martin, E., Charles, P., Courtin, T., Keren, B., Iascone, M., Cereda, A., Poke, G., Abadie, V., Chalouhi, C., Parthasarathy, P., Halliday, B.J., Robertson, S.P., Lyonnet, S., Amiel, J., Gordon, C.T., CAUSES Study, Genomics England Res Consortium

Publikováno v: American Journal of Human Genetics, 108, 1138-1150
American Journal of Human Genetics, 108, 6, pp. 1138-1150
Am J Hum Genet
American Journal of Human Genetics, 108(6), 1138-1150. Cell Press
American Journal of Human Genetics, 108(6), 1138-1150. CELL PRESS

ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0aad380f9aaa6b9e305df2f86f3fae1
https://doi.org/10.1016/j.ajhg.2021.04.007

Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures

Autor: Rots, D., Chater-Diehl, E., Dingemans, A. J. M., Siu, M., Cytrynbaum, C., Hoang, N., Walker, S., Scherer, S., Pfundt, R., Rinne, T., Gardeitchik, T., Vries, B. B. A., Stumpel, C. T. R. M., Stevens, S. J. C., Harssel, J., Bosch, D. G. M., Gassen, K. L. I., Binsbergen, E., Geus, C. M., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Lilian Bomme Ousager, Martin Jakob Larsen, Schultz-Rogers, L., Morava, E., Klee, E. W., Berry, I. R., Campbell, J., Lindstrom, K., Neumeyer, A. M., Radley, J. A., Phornphutkul, C., Wilson, W. G., Schmidt, B., Meyn, S., Ounap, K., Reinson, K., Pajusalu, S., Ruivenkamp, C., Haeringen, A., Cuperus, R., Vissers, L. E. L. M., Brunner, H. G., Kleefstra, T., Koolen, D. A., Weksberg, R., GeneDx Inc

Publikováno v: Rots, D, Chater-Diehl, E, Dingemans, A J M, Siu, M, Cytrynbaum, C, Hoang, N, Walker, S, Scherer, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Stumpel, C T R M, Stevens, S J C, van Harssel, J, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Neumeyer, A M, Radley, J A, Phornphutkul, C, Wilson, W G, Schmidt, B, Meyn, S, Ounap, K, Reinson, K, Pajusalu, S, Ruivenkamp, C, van Haeringen, A, Cuperus, R, Vissers, L E L M, Brunner, H G, Kleefstra, T, Koolen, D A, Weksberg, R & Inc, G 2020, ' Location, location, location: protein truncating variants in different loci of SRCAP cause three distinct neurodevelopmental disorders, associated with distinctive DNA methylation signatures ', European Journal of Human Genetics, vol. 28, no. Suppl. 1, pp. 34-35 .
University of Southern Denmark

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a2bcbc5487b6c7b63cd6aea418b402ba
https://portal.findresearcher.sdu.dk/da/publications/e3228e28-d4fc-4a07-8480-3fb7a895b3d2

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Autor: Johannesen, Km, Mitter, D, Janowski, R, Roth, C, Toulouse, J, Poulat, Al, Ville, Dm, Chatron, N, Brilstra, E, Geleijns, K, Born, Ap, McLean, S, Nugent, K, Baynam, G, Poulton, C, Dreyer, L, Gration, D, Schulz, S, Dieckmann, A, Helbig, Kl, Merkenschlager, A, Jamra, R, Finck, A, Gardella, E, Hjalgrim, H, Mirzaa, G, Brancati, F, Bierhals, T, Denecke, J, Hempel, M, Lemke, Jr, Rubboli, G, Muschke, P, Guerrini, R, Vetro, A, Niessing, D, Lesca, G, Møller, Rs

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______310::a538ac3dabfcc002c6761bae3e1379b3
http://hdl.handle.net/2158/1192687