부산대학교 도서관

Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein, Ulrike; Haack, Tobias B; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Genomics England Research Consortium; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B

Genomics England Research Consortium 2023, 'Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy', American Journal of Human Genetics, vol. 110, no. 1, pp. 120-145. https://doi.org/10.1016/j.ajhg.2022.11.011

Wortmann, Saskia B; Feichtinger, Rene G; Abela, Lucia; van Gemert, Loes A; Aubart, Mélodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stühn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Mühlhausen, Chris; Rio, Marlène; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B; Syrbe, Steffen; Zylicz, Stas A; Thiel, Christian; Veiga da Cunha, Maria; Van Schaftingen, Emile; Wagner, Matias; Mayr, Johannes A; Wevers, Ron A; Boltshauser, Eugen; Willemsen, Michel A

Neurology. Genetics, Vol. 10, no.2, p. e200146 (2024)

Wortmann, Saskia B; Feichtinger, René G; Abela, Lucia; van Gemert, Loes A; Aubart, Mélodie; Dufeu-Berat, Claire-Marine; Boddaert, Nathalie; de Coo, Rene; Stühn, Lara; Hebbink, Jasmijn; Heinritz, Wolfram; Hildebrandt, Julia; Himmelreich, Nastassja; Korenke, Christoph; Lehman, Anna; Leyland, Thomas; Makowski, Christine; Martinez Marin, Rafael Jenaro; Marzin, Pauline; Mühlhausen, Chris; Rio, Marlène; Rotig, Agnes; Roux, Charles-Joris; Schiff, Manuel; Haack, Tobias B; Syrbe, Steffen; Zylicz, Stas A; Thiel, Christian; Veiga da Cunha, Maria; van Schaftingen, Emile; et al

Mulligan, Anna Marie; Couch, Fergus J.; Barrowdale, Daniel; Domchek, Susan M.; Eccles, Diana; Nevanlinna, Heli; Ramus, Susan J.; Robson, Mark; Sherman, Mark; Spurdle, Amanda B.; Wappenschmidt, Barbara; Lee, Andrew; McGuffog, Lesley; Healey, Sue; Sinilnikova, Olga M.; Janavicius, Ramunas; Hansen, Thomas V. O.; Nielsen, Finn C.; Ejlertsen, Bent; Osorio, Ana; Munoz-Repeto, Ivan; Duran, Mercedes; Godino, Javier; Pertesi, Maroulio; Benitez, Javier; Peterlongo, Paolo; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Cattaneo, Elisa; Bonanni, Bernardo; Viel, Alessandra; Pasini, Barbara; Papi, Laura; Ottini, Laura; Savarese, Antonella; Bernard, Loris; Radice, Paolo; Hamann, Ute; Verheus, Martijn; Meijers-Heijboer, Hanne E. J.; Wijnen, Juul; Garcia, Encarna B. Gomez; Nelen, Marcel R.; Kets, C. Marleen; Seynaeve, Caroline; Tilanus-Linthorst, Madeleine M. A.; van der Luijt, Rob B.; van Os, Theo; Rookus, Matti; Frost, Debra; Jones, J. Louise; Evans, D. Gareth; Lalloo, Fiona; Eeles, Ros; Izatt, Louise; Adlard, Julian; Davidson, Rosemarie; Cook, Jackie; Donaldson, Alan; Dorkins, Huw; Gregory, Helen; Eason, Jacqueline; Houghton, Catherine; Barwell, Julian; Side, Lucy E.; McCann, Emma; Murray, Alex; Peock, Susan; Godwin, Andrew K.; Schmutzler, Rita K.; Rhiem, Kerstin; Engel, Christoph; Meindl, Alfons; Ruehl, Ina; Arnold, Norbert; Niederacher, Dieter; Sutter, Christian; Deissler, Helmut; Gadzicki, Dorothea; Kast, Karin; Preisler-Adams, Sabine; Varon-Mateeva, Raymonda; Schoenbuchner, Ines; Fiebig, Britta; Heinritz, Wolfram; Schaefer, Dieter; Gevensleben, Heidrun; Caux-Moncoutier, Virginie; Fassy-Colcombet, Marion; Cornelis, Francois; Mazoyer, Sylvie; Leone, Melanie; Boutry-Kryza, Nadia; Hardouin, Agnes; Berthet, Pascaline; Muller, Daniele; Fricker, Jean-Pierre; Mortemousque, Isabelle; Pujol, Pascal; Coupier, Isabelle; Lebrun, Marine; Kientz, Caroline; Longy, Michel; Sevenet, Nicolas; Stoppa-Lyonnet, Dominique; Isaacs, Claudine; Caldes, Trinidad; de la Hoya, Miguel; Heikkinen, Tuomas; Aittomaki, Kristiina; Blanco, Ignacio; Lazaro, Conxi; Barkardottir, Rosa B.; Soucy, Penny; Dumont, Martine; Simard, Jacques; Montagna, Marco; Tognazzo, Silvia; D'Andrea, Emma; Fox, Stephen; Yan, Max; Rebbeck, Tim; Olopade, Olufunmilayo I.; Weitzel, Jeffrey N.; Lynch, Henry T.; Ganz, Patricia A.; Tomlinson, Gail E.; Wang, Xianshu; Fredericksen, Zachary; Pankratz, Vernon S.; Lindor, Noralane M.; Szabo, Csilla; Offit, Kenneth; Sakr, Rita; Gaudet, Mia; Bhatia, Jasmine; Kauff, Noah; Singer, Christian F.; Tea, Muy-Kheng; Gschwantler-Kaulich, Daphne; Fink-Retter, Anneliese; Mai, Phuong L.; Greene, Mark H.; Imyanitov, Evgeny; O'Malley, Frances P.; Ozcelik, Hilmi; Glendon, Gordon; Toland, Amanda E.; Gerdes, Anne-Marie; Thomassen, Mads; Kruse, Torben A.; Jensen, Uffe Birk; Skytte, Anne-Bine; Caligo, Maria A.; Soller, Maria; Henriksson, Karin; Wachenfeldt, von Anna; Arver, Brita; Stenmark-Askmalm, Marie; Karlsson, Per; Ding, Yuan Chun; Neuhausen, Susan L.; Beattie, Mary; Pharoah, Paul D. P.; Moysich, Kirsten B.; Nathanson, Katherine L.; Karlan, Beth Y.; Gross, Jenny; John, Esther M.; Daly, Mary B.; Buys, Saundra M.; Southey, Melissa C.; Hopper, John L.; Terry, Mary Beth; Chung, Wendy; Miron, Alexander F.; Goldgar, David; Chenevix-Trench, Georgia; Easton, Douglas F.; Andrulis, Irene L.; Antoniou, Antonis C.

Breast Cancer Research. 13(6)

Mitter, Diana; Pringsheim, Milka; Kaulisch, Marc; Plümacher, Kim Sarah; Schröder, Simone; Warthemann, Rita; Abou Jamra, Rami; Baethmann, Martina; Bast, Thomas; Büttel, Hans-Martin; Cohen, Julie S; Conover, Elizabeth; Courage, Carolina; Eger, Angelika; Fatemi, Ali; Grebe, Theresa A; Hauser, Natalie S; Heinritz, Wolfram; Helbig, Katherine L; Heruth, Marion; Huhle, Dagmar; Höft, Karen; Karch, Stephanie; Kluger, Gerhard; Korenke, G Christoph; Lemke, Johannes R; Lutz, Richard E; Patzer, Steffi; Prehl, Isabelle; Hoertnagel, Konstanze; Ramsey, Keri; Rating, Tina; Rieß, Angelika; Rohena, Luis; Schimmel, Mareike; Westman, Rachel; Zech, Frank-Martin; Zoll, Barbara; Malzahn, Dörthe; Zirn, Birgit; Brockmann, Knut

Genetics in Medicine. 20:98-108

Di Donato, Nataliya; Küchler, Alma; Velgano, Samantha; Heinritz, Wolfram; Bodurtha, Joann; Merchant, Sabiha R.; Breningstall, Galen; Ladda, Roger; Sell, Susan; Altmüller, Janine; Bögershausen, Nina; Timms, Andrew E.; Hackmann, Karl; Schrock, Evelin; Collins, Sarah; Olds, Carissa; Rump, Andreas; Dobyns, William B.

American Journal of Medical Genetics Part A. 170:2644-2651

Ya-Chun Chen; Michaela Auer-Grumbach; Shinya Matsukawa; Manuela Zitzelsberger; Andreas C Themistocleous; Tim M Strom; Chrysanthi Samara; Adrian W Moore; Lily Ting-Yin Cho; Gareth T Young; Caecilia Weiss; Maria Schabhüttl; Rolf Stucka; Annina B Schmid; Yesim Parman; Luitgard Graul-Neumann; Wolfram Heinritz; Eberhard Passarge; Rosemarie M Watson; Jens Michael Hertz; Ute Moog; Manuela Baumgartner; Enza Maria Valente; Diego Pereira; Carlos M Restrepo; Istvan Katona; Marina Dusl; Claudia Stendel; Thomas Wieland; Fay Stafford; Frank Reimann; Katja von Au; Christian Finke; Patrick J Willems; Michael S Nahorski; Samiha S Shaikh; Ofélia P Carvalho; Adeline K Nicholas; Gulshan Karbani; Maeve A McAleer; Maria Roberta Cilio; John C McHugh; Sinead M Murphy; Alan D Irvine; Uffe Birk Jensen; Reinhard Windhager; Joachim Weis; Carsten Bergmann; Bernd Rautenstrauss; Jonathan Baets; Peter De Jonghe; Mary M Reilly; Regina Kropatsch; Ingo Kurth; Roman Chrast; Tatsuo Michiue; David L H Bennett; C Geoffrey Woods; Jan Senderek

Nature genetics 47(7), 803-808 (2015). doi:10.1038/ng.3308
Nature genetics
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Nat. Genet. 47, 803-808 (2015)
Chen, Y C, Auer-Grumbach, M, Matsukawa, S, Zitzelsberger, M, Themistocleous, A C, Strom, T M, Samara, C, Moore, A W, Cho, L T Y, Young, G T, Weiss, C, Schabhüttl, M, Stucka, R, Schmid, A B, Parman, Y, Graul-Neumann, L, Heinritz, W, Passarge, E, Watson, R M, Hertz, J M, Moog, U, Baumgartner, M, Valente, E M, Pereira, D, Restrepo, C M, Katona, I, Dusl, M, Stendel, C, Wieland, T, Stafford, F, Reimann, F, Von Au, K, Finke, C, Willems, P J, Nahorski, M S, Shaikh, S S, Carvalho, O P, Nicholas, A K, Karbani, G, McAleer, M A, Cilio, M R, McHugh, J C, Murphy, S M, Irvine, A D, Jensen, U B, Windhager, R, Weis, J, Bergmann, C, Rautenstrauss, B & Baets, J 2015, 'Transcriptional regulator PRDM12 is essential for human pain perception', Nature Genetics, vol. 47, no. 7, pp. 803-808. https://doi.org/10.1038/ng.3308
Nature Genetics

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Nat Genet
Articles publicats en revistes (Ciències Clíniques)
Dipòsit Digital de la UB
instname
Universidad de Barcelona
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Recercat. Dipósit de la Recerca de Catalunya
Digital.CSIC. Repositorio Institucional del CSIC
Nature Genetics, 47, 2, pp. 164-71
Kuchenbaecker, K B, Ramus, S J, Tyrer, J, Lee, A, Shen, H C, Beesley, J, Lawrenson, K, McGuffog, L, Healey, S, Lee, J M, Spindler, T J, Lin, Y G, Pejovic, T, Bean, Y, Li, Q, Coetzee, S, Hazelett, D, Miron, A, Southey, M, Terry, M B, Goldgar, D E, Buys, S S, Janavicius, R, Dorfling, C M, van Rensburg, E J, Neuhausen, S L, Ding, Y C, Hansen, T V O, Jønson, L, Gerdes, A-M, Ejlertsen, B, Barrowdale, D, Dennis, J, Benitez, J, Osorio, A, Garcia, M J, Komenaka, I, Weitzel, J N, Ganschow, P, Peterlongo, P, Bernard, L, Viel, A, Bonanni, B, Peissel, B, Manoukian, S, Radice, P, Papi, L, Kruse, T A, Thomassen, M, Bojesen, A & EMBRACE 2015, ' Identification of six new susceptibility loci for invasive epithelial ovarian cancer ', Nature Genetics, vol. 47, no. 2, pp. 164-171 . https://doi.org/10.1038/ng.3185
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