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pro vyhledávání: '"Noraly Jonis"'
Autor:
Alexander J M Dingemans, Max Hinne, Kim M G Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Illja J Diets, Joery den Hoed, Elke de Boer, Jet Coenen-van der Spek, Sandra Jansen, Bregje W van Bon, Noraly Jonis, Charlotte Ockeloen, Anneke T Vulto-van Silfhout, Tjitske Kleefstra, David A Koolen, Hilde Van Esch, Gholson J Lyon, Fowzan S Alkuraya, Anita Rauch, Ronit Marom, Diana Baralle, Pleuntje J van der Sluijs, Gijs W E Santen, R Frank Kooy, Marcel A J van Gerven, Lisenka E L M Vissers, Bert B A de Vries
While both molecular and phenotypic data are essential when interpreting genetic variants, prediction scores (CADD, PolyPhen, and SIFT) have focused on molecular details to evaluate pathogenicity — omitting phenotypic features. To unlock the full p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bd22bb951772c3e14bec8543a332a92a
https://doi.org/10.1101/2022.10.24.22281480
https://doi.org/10.1101/2022.10.24.22281480
Autor:
Jeroen Ewals, Kim M G Truijen, Sandra Jansen, Jozef Gecz, Diante E Stremmelaar, David A. Koolen, Bert B.A. de Vries, Alexander J. M. Dingemans, Michel Verbruggen, Lisenka E.L.M. Vissers, Noraly Jonis, Han G. Brunner, Evan E. Eichler, Maria J. Nabais Sá, Angela van Remortele, Sam van de Ven
Publikováno v:
American Journal of Medical Genetics. Part A, 185, 1039-1046
American Journal of Medical Genetics. Part a
Dingemans, A J M, Stremmelaar, D E, Vissers, L E L M, Jansen, S, Nabais Sá, M J, van Remortele, A, Jonis, N, Truijen, K, van de Ven, S, Ewals, J, Verbruggen, M, Koolen, D A, Brunner, H G, Eichler, E E, Gecz, J & de Vries, B B A 2021, ' Human disease genes website series: An international, open and dynamic library for up-to-date clinical information ', American Journal of Medical Genetics, Part A, vol. 185, no. 4, pp. 1039-1046 . https://doi.org/10.1002/ajmg.a.62057
American Journal of Medical Genetics, Part A, 185(4), 1039-1046. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 185, 4, pp. 1039-1046
American Journal of Medical Genetics. Part a
Dingemans, A J M, Stremmelaar, D E, Vissers, L E L M, Jansen, S, Nabais Sá, M J, van Remortele, A, Jonis, N, Truijen, K, van de Ven, S, Ewals, J, Verbruggen, M, Koolen, D A, Brunner, H G, Eichler, E E, Gecz, J & de Vries, B B A 2021, ' Human disease genes website series: An international, open and dynamic library for up-to-date clinical information ', American Journal of Medical Genetics, Part A, vol. 185, no. 4, pp. 1039-1046 . https://doi.org/10.1002/ajmg.a.62057
American Journal of Medical Genetics, Part A, 185(4), 1039-1046. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 185, 4, pp. 1039-1046
Since the introduction of next‐generation sequencing, an increasing number of disorders have been discovered to have genetic etiology. To address diverse clinical questions and coordinate research activities that arise with the identification of th