edoc

Items where Author is "Antonarakis, Stylianos E."

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Date | Item Type | Refereed
Jump to: Article
Number of items: 5.

Article

Ansar, Muhammad and Ranza, Emmanuelle and Shetty, Madhur and Paracha, Sohail A. and Azam, Maleeha and Kern, Ilse and Iwaszkiewicz, Justyna and Farooq, Omer and Pournaras, Constantin J. and Malcles, Ariane and Kecik, Mateusz and Rivolta, Carlo and Muzaffar, Waqar and Qurban, Aziz and Ali, Liaqat and Aggoun, Yacine and Santoni, Federico A. and Makrythanasis, Periklis and Ahmed, Jawad and Qamar, Raheel and Sarwar, Muhammad T. and Henry, L. Keith and Antonarakis, Stylianos E.. (2020) Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. Human molecular genetics, 29 (4). pp. 618-623.

Liu, Yansheng and Mi, Yang and Mueller, Torsten and Kreibich, Saskia and Williams, Evan G. and Van Drogen, Audry and Borel, Christelle and Frank, Max and Germain, Pierre-Luc and Bludau, Isabell and Mehnert, Martin and Seifert, Michael and Emmenlauer, Mario and Sorg, Isabel and Bezrukov, Fedor and Sloan Bena, Frederique and Zhou, Hu and Dehio, Christoph and Testa, Giuseppe and Saez-Rodriguez, Julio and Antonarakis, Stylianos E. and Hardt, Wolf-Dietrich and Aebersold, Ruedi. (2019) Multi-omic measurements of heterogeneity in HeLa cells across laboratories. Nature Biotechnology, 37 (3). pp. 314-322.

Valsesia, Armand and Rimoldi, Donata and Martinet, Danielle and Ibberson, Mark and Benaglio, Paola and Quadroni, Manfredo and Waridel, Patrice and Gaillard, Muriel and Pidoux, Mireille and Rapin, Blandine and Rivolta, Carlo and Xenarios, Ioannis and Simpson, Andrew J. G. and Antonarakis, Stylianos E. and Beckmann, Jacques S. and Jongeneel, C. Victor and Iseli, Christian and Stevenson, Brian J.. (2011) Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma. PloS one, 6 (4). e18369.

Jacquemont, Sébastien and Reymond, Alexandre and Zufferey, Flore and Harewood, Louise and Walters, Robin G. and Kutalik, Zoltán and Martinet, Danielle and Shen, Yiping and Valsesia, Armand and Beckmann, Noam D. and Thorleifsson, Gudmar and Belfiore, Marco and Bouquillon, Sonia and Campion, Dominique and de Leeuw, Nicole and de Vries, Bert B. A. and Esko, Tõnu and Fernandez, Bridget A. and Fernández-Aranda, Fernando and Fernández-Real, José Manuel and Gratacòs, Mònica and Guilmatre, Audrey and Hoyer, Juliane and Jarvelin, Marjo-Riitta and Kooy, R. Frank and Kurg, Ants and Le Caignec, Cédric and Männik, Katrin and Platt, Orah S. and Sanlaville, Damien and Van Haelst, Mieke M. and Villatoro Gomez, Sergi and Walha, Faida and Wu, Bai-Lin and Yu, Yongguo and Aboura, Azzedine and Addor, Marie-Claude and Alembik, Yves and Antonarakis, Stylianos E. and Arveiler, Benoît and Barth, Magalie and Bednarek, Nathalie and Béna, Frédérique and Bergmann, Sven and Beri, Mylène and Bernardini, Laura and Blaumeiser, Bettina and Bonneau, Dominique and Bottani, Armand and Boute, Odile and Brunner, Han G. and Cailley, Dorothée and Callier, Patrick and Chiesa, Jean and Chrast, Jacqueline and Coin, Lachlan and Coutton, Charles and Cuisset, Jean-Marie and Cuvellier, Jean-Christophe and David, Albert and de Freminville, Bénédicte and Delobel, Bruno and Delrue, Marie-Ange and Demeer, Bénédicte and Descamps, Dominique and Didelot, Gérard and Dieterich, Klaus and Disciglio, Vittoria and Doco-Fenzy, Martine and Drunat, Séverine and Duban-Bedu, Bénédicte and Dubourg, Christèle and El-Sayed Moustafa, Julia S. and Elliott, Paul and Faas, Brigitte H. W. and Faivre, Laurence and Faudet, Anne and Fellmann, Florence and Ferrarini, Alessandra and Fisher, Richard and Flori, Elisabeth and Forer, Lukas and Gaillard, Dominique and Gerard, Marion and Gieger, Christian and Gimelli, Stefania and Gimelli, Giorgio and Grabe, Hans J. and Guichet, Agnès and Guillin, Olivier and Hartikainen, Anna-Liisa and Heron, Délphine and Hippolyte, Loyse and Holder, Muriel and Homuth, Georg and Isidor, Bertrand and Jaillard, Sylvie and Jaros, Zdenek and Jiménez-Murcia, Susana and Helas, Géraldine Joly and Jonveaux, Philippe and Kaksonen, Satu and Keren, Boris and Kloss-Brandstätter, Anita and Knoers, Nine V. A. M. and Koolen, David A. and Kroisel, Peter M. and Kronenberg, Florian and Labalme, Audrey and Landais, Emilie and Lapi, Elisabetta and Layet, Valérie and Legallic, Solenn and Leheup, Bruno and Leube, Barbara and Lewis, Suzanne and Lucas, Josette and MacDermot, Kay D. and Magnusson, Pall and Marshall, Christian and Mathieu-Dramard, Michèle and McCarthy, Mark I. and Meitinger, Thomas and Mencarelli, Maria Antonietta and Merla, Giuseppe and Moerman, Alexandre and Mooser, Vincent and Morice-Picard, Fanny and Mucciolo, Mafalda and Nauck, Matthias and Ndiaye, Ndeye Coumba and Nordgren, Ann and Pasquier, Laurent and Petit, Florence and Pfundt, Rolph and Plessis, Ghislaine and Rajcan-Separovic, Evica and Ramelli, Gian Paolo and Rauch, Anita and Ravazzolo, Roberto and Reis, Andre and Renieri, Alessandra and Richart, Cristobal and Ried, Janina S. and Rieubland, Claudine and Roberts, Wendy and Roetzer, Katharina M. and Rooryck, Caroline and Rossi, Massimiliano and Saemundsen, Evald and Satre, Véronique and Schurmann, Claudia and Sigurdsson, Engilbert and Stavropoulos, Dimitri J. and Stefansson, Hreinn and Tengström, Carola and Thorsteinsdóttir, Unnur and Tinahones, Francisco J. and Touraine, Renaud and Vallée, Louis and van Binsbergen, Ellen and Van der Aa, Nathalie and Vincent-Delorme, Catherine and Visvikis-Siest, Sophie and Vollenweider, Peter and Völzke, Henry and Vulto-van Silfhout, Anneke T. and Waeber, Gérard and Wallgren-Pettersson, Carina and Witwicki, Robert M. and Zwolinksi, Simon and Andrieux, Joris and Estivill, Xavier and Gusella, James F. and Gustafsson, Omar and Metspalu, Andres and Scherer, Stephen W. and Stefansson, Kari and Blakemore, Alexandra I. F. and Beckmann, Jacques S. and Froguel, Philippe. (2011) Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature, Vol. 478, H. 7367. pp. 97-102.

Deutsch, Samuel and Rideau, Alexandra and Bochaton-Piallat, Marie-Luce and Merla, Giuseppe and Geinoz, Antoine and Gabbiani, Giulio and Schwede, Torsten and Matthes, Thomas and Antonarakis, Stylianos E. and Beris, Photis. (2003) Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. Blood, Vol. 102. pp. 529-534.

This list was generated on Fri Mar 29 15:13:47 2024 CET.