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Zeitschriftenartikel
Neuser, Sonja; Brechmann, Barbara; Heimer, Gali; Broesse, Ines; Schubert, Susanna; O'Grady, Lauren; Zech, Michael; Srivastava, Siddharth; Sweetser, David A.; Dincer, Yasemin; Mall, Volker; Winkelmann, Juliane; Behrends, Christian; Darras, Basil T.; Graham, Robert J.; Jayakar, Parul; Byrne, Barry; Bar-Aluma, Bat El; Haberman, Yael; Szeinberg, Amir; Aldhalaan, Hesham M.; Hashem, Mais; Al Tenaiji, Amal; Ismayl, Omar; Al Nuaimi, Asma E.; Maher, Karima; Ibrahim, Shahnaz; Khan, Fatima; Houlden, Henry; Ramakumaran, Vijayalakshmi S.; Pagnamenta, Alistair T.; Posey, Jennifer E.; Lupski, James R.; Tan, Wen-Hann; ElGhazali, Gehad; Herman, Isabella; Munoz, Tatiana; Repetto, Gabriela M.; Seitz, Angelika; Krumbiegel, Mandy; Poli, Maria Cecilia; Kini, Usha; Efthymiou, Stephanie; Meiler, Jens; Maroofian, Reza; Alkuraya, Fowzan S.; Abou Jamra, Rami; Popp, Bernt; Ben-Zeev, Bruria und Ebrahimi-Fakhari, Darius
(2021):
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
In: Human Mutation, Bd. 42, Nr. 6: S. 762-776
[PDF, 3MB]
Lloyd, K. C. Kent; Adams, David J.; Baynam, Gareth; Beaudet, Arthur L.; Bosch, Fatima; Boycott, Kym M.; Braun, Robert E.; Caulfield, Mark; Cohn, Ronald; Dickinson, Mary E.; Dobbie, Michael S.; Flenniken, Ann M.; Flicek, Paul; Galande, Sanjeev; Gao, Xiang; Grobler, Anne; Heaney, Jason D.; Herault, Yann; De Angelis, Martin Hrabe; Lupski, James R.; Lyonnet, Stanislas; Mallon, Ann-Marie; Mammano, Fabio; MacRae, Calum A.; McInnes, Roderick; McKerlie, Colin; Meehan, Terrence F.; Murray, Stephen A.; Nutter, Lauryl M. J.; Obata, Yuichi; Parkinson, Helen; Pepper, Michael S.; Sedlacek, Radislav; Seong, Je Kyung; Shiroishi, Toshihiko; Smedley, Damian; Tocchini-Valentini, Glauco; Valle, David; Wang, Chi-Kuang Leo; Wells, Sara; White, Jacqueline; Wurst, Wolfgang; Xu, Ying und Brown, Steve D. M.
(2020):
The Deep Genome Project.
In: Genome Biology, Bd. 21, Nr. 1, 18
[PDF, 609kB]
Vogelaar, Ingrid P.; Post, Rachel S. van der; Krieken, J. Han J. M. van; Spruijt, Liesbeth; Zelst-Stams, Wendy A. G. van; Kets, C. Marleen; Lubinski, Jan; Jakubowska, Anna; Teodorczyk, Urszula; Aalfs, Cora M.; Hest, Liselotte P. van; Pinheiro, Hugo; Oliveira, Carla; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Lupski, James R.; Ligt, Joep de; Vissers, Lisenka E. L. M.; Hoischen, Alexander; Gilissen, Christian; Vorst, Maartje van de; Goeman, Jelle J.; Schackert, Hans K.; Ranzani, Guglielmina N.; Molinaro, Valeria; Garcia, Encarna B. Gomez; Hes, Frederik J.; Holinski-Feder, Elke; Genuardi, Maurizio; Ausems, Margreet G. E. M.; Sijmons, Rolf H.; Wagner, Anja; Kolk, Lizet E. van der; Björnevoll, Inga; Hoberg-Vetti, Hildegunn; Kessel, Ad Geurts van; Kuiper, Roland P.; Ligtenberg, Marjolijn J. L. und Hoogerbrugge, Nicoline
(2017):
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.
In: European Journal of Human Genetics, Bd. 25, Nr. 11: S. 1246-1252