المؤلفون: Krane, M, Dressen, M, Santamaria, G, My, I, Schneider, C, Dorn, T, Laue, S, Mastantuono, E, Berutti, R, Rawat, H, Gilsbach, R, Schneider, P, Lahm, H, Schwarz, S, Doppler, S, Paige, S, Puluca, N, Doll, S, Neb, I, Brade, T, Zhang, Z, Abou-Ajram, C, Northoff, B, Holdt, L, Sudhop, S, Sahara, M, Goedel, A, Dendorfer, A, Tjong, F, Rijlaarsdam, M, Cleuziou, J, Lang, N, Kupatt, C, Bezzina, C, Lange, R, Bowles, N, Mann, M, Gelb, B, Crotti, L, Hein, L, Meitinger, T, Wu, S, Sinnecker, D, Gruber, P, Laugwitz, K, Moretti, A, Krane M., Dressen M., Santamaria G., My I., Schneider C. M., Dorn T., Laue S., Mastantuono E., Berutti R., Rawat H., Gilsbach R., Schneider P., Lahm H., Schwarz S., Doppler S. A., Paige S., Puluca N., Doll S., Neb I., Brade T., Zhang Z., Abou-Ajram C., Northoff B., Holdt L. M., Sudhop S., Sahara M., Goedel A., Dendorfer A., Tjong F. V. Y., Rijlaarsdam M. E., Cleuziou J., Lang N., Kupatt C., Bezzina C., Lange R., Bowles N. E., Mann M., Gelb B. D., Crotti L., Hein L., Meitinger T., Wu S., Sinnecker D., Gruber P. J., Laugwitz K. -L., Moretti A.

مصطلحات الفهرس: Autophagy, Cell cycle, Heart defects, congenital, Hypoplastic left heart syndrome, Induced pluripotent stem cell, Unfolded protein response, Whole exome sequencing, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10281/390666
info:eu-repo/semantics/altIdentifier/pmid/34694888
info:eu-repo/semantics/altIdentifier/wos/WOS:000711139700008
volume:144
issue:17
firstpage:1409
lastpage:1428
numberofpages:20
journal:CIRCULATION

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المؤلفون: Sniekers, M., Foulon, V., Mannaerts, G. P., Van Maldergem, L., Mandel, H., Gelb, B. D., Casteels, M., Van Veldhoven, P. P.

المصدر: Cellular and Molecular Life Sciences CMLS. July 2006 63(13):1553-1563

المؤلفون: Motta, M., Pannone, L., Pantaleoni, F., Bocchinfuso, G., Radio, F. C., Cecchetti, S., Ciolfi, A., Di Rocco, M., Elting, M. W., Brilstra, E. H., Boni, S., Mazzanti, L., Tamburrino, F., Walsh, L., Payne, K., Fernandez-Jaen, A., Ganapathi, M., Chung, W. K., Grange, D. K., Dave-Wala, A., Reshmi, S. C., Bartholomew, D. W., Mouhlas, D., Carpentieri, G., Bruselles, A., Pizzi, S., Bellacchio, E., Piceci-Sparascio, F., Lissewski, C., Brinkmann, J., Waclaw, R. R., Waisfisz, Q., van Gassen, K., Wentzensen, I. M., Morrow, M. M., Alvarez, S., Martinez-Garcia, M., De Luca, A., Memo, L., Zampino, Giuseppe, Rossi, C., Seri, M., Gelb, B. D., Zenker, M., Dallapiccola, B., Stella, L., Prada, C. E., Martinelli, S., Flex, E., Tartaglia, M., Zampino G. (ORCID:0000-0003-3865-3253)

مصطلحات الفهرس: C. elegans, ERK2, exome sequencing, intracellular signaling, MAPK cascade, MKP3, Noonan syndrome, RAS signaling, RASopathies, RSK, Carcinogenesis, Child, Preschool, Female, Humans, MAP Kinase Signaling System, Male, Mitogen-Activated Protein Kinase 1, Mutation, Missense, Neurodevelopmental Disorders, Noonan Syndrome, Phenotype, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Signal Transduction, Whole Exome Sequencing, ras Proteins, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10807/166663
info:eu-repo/semantics/altIdentifier/pmid/32721402
info:eu-repo/semantics/altIdentifier/wos/WOS:000565899700010
volume:107
issue:3
firstpage:499
lastpage:513
numberofpages:15
issueyear:2020
journal:AMERICAN JOURNAL OF HUMAN GENETICS

المؤلفون: Everts, V., Hou, W. S., Rialland, X., Tigchelaar, W., Saftig, P., Brömme, D., Gelb, B. D., Beertsen, W.

المصدر: Calcified Tissue International. October 2003 73(4):380-386

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المؤلفون: Andelfinger, G., Zenker, M., Norrish, G., Russell, M., Meisner, J., Peng, D., Prendiville, T., Kleinmahon, J., Kantor, P., Sen, D Gottlieb, Human, D., Ewert, P., Krueger, M., Reber, D., Donner, B., Hart, C., Odri-Komazec, I., Rupp, S., Hahn, A., Hanser, A., Hofbeck, M., Draaisma, J., Udink ten Cate, F., Mussa, A., Ferrero, G., Vaujois, L., Raboisson, M., Delrue, M., Marquis, C., Théorêt, Y., Kaski, J., Gelb, B., Wolf, C.

المصدر: In Canadian Journal of Cardiology October 2022 38(10) Supplement 2:S128-S129

المؤلفون: Gelb, B. D., Spencer, Eric, Obad, Suliman, Edelson, Gordon J., Faure, Simon, Weissenbach, Jean, Desnick, Robert J.

المصدر: Human Genetics. July 1996 98(2):141-144

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