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Nature communications, 2016-05, Vol.7 (1), p.11600-11600, Article 11600
- Jansen, Eric J R
- Timal, Sharita
- Ryan, Margret
- Ashikov, Angel
- van Scherpenzeel, Monique
- Graham, Laurie A
- Mandel, Hanna
- Hoischen, Alexander
- Iancu, Theodore C
- Raymond, Kimiyo
- Steenbergen, Gerry
- Gilissen, Christian
- Huijben, Karin
- van Bakel, Nick H M
- Maeda, Yusuke
- Rodenburg, Richard J
- Adamowicz, Maciej
- Crushell, Ellen
- Koenen, Hans
- Adams, Darius
- Vodopiutz, Julia
- Greber-Platzer, Susanne
- Müller, Thomas
- Dueckers, Gregor
- Morava, Eva
- Sykut-Cegielska, Jolanta
- Martens, Gerard J M
- Wevers, Ron A
- Niehues, Tim
- Huynen, Martijn A
- Veltman, Joris A
- Stevens, Tom H
- Lefeber, Dirk J
2016
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Proceedings of the National Academy of Sciences - PNAS, 2019-01, Vol.116 (2), p.566-574
- Chen, Chih-Wei
- Wang, Hong-Ling
- Huang, Ching-Wen
- Huang, Chang-Yu
- Lim, Wai Keong
- Tu, I-Chen
- Koorapati, Atmaja
- Hsieh, Sung-Tsang
- Kan, Hung-Wei
- Tzeng, Shiou-Ru
- Liao, Jung-Chi
- Chong, Weng Man
- Naroditzky, Inna
- Kidron, Dvora
- Eran, Ayelet
- Nijim, Yousif
- Sela, Ella
- Feldman, Hagit Baris
- Kalfon, Limor
- Raveh-Barak, Hadas
- Falik-Zaccai, Tzipora C.
- Elpeleg, Orly
- Mandel, Hanna
- Chang, Zee-Fen
2019
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American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2204-2215
2013
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Child neurology open, 2015-10, Vol.2 (4), p.2329048X15609606-2329048X15609606
2015
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Human mutation, 2003-07, Vol.22 (1), p.24-34
- Gao, Hong-Zhi
- Kobayashi, Keiko
- Tabata, Ayako
- Tsuge, Hideaki
- Iijima, Mikio
- Yasuda, Tomotsugu
- Kalkanoglu, H. Serap
- Dursun, Ali
- Tokatli, Aysegul
- Coskun, Turgay
- Trefz, Friedrich K.
- Skladal, Daniela
- Mandel, Hanna
- Seidel, Joerg
- Kodama, Soichi
- Shirane, Seiko
- Ichida, Takafumi
- Makino, Shigeru
- Yoshino, Makoto
- Kang, Jong-Hon
- Mizuguchi, Masashi
- Barshop, Bruce A.
- Fuchinoue, Shohei
- Seneca, Sara
- Zeesman, Susan
- Knerr, Ina
- Rodés, Margarita
- Wasant, Pornswan
- Yoshida, Ichiro
- De Meirleir, Linda
- Abdul Jalil, Md
- Begum, Laila
- Horiuchi, Masahisa
- Katunuma, Nobuhiko
- Nakagawa, Shiro
- Saheki, Takeyori
2003
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Journal of inherited metabolic disease, 2021-03, Vol.44 (2), p.376-387
- Hirano, Michio
- Carelli, Valerio
- De Giorgio, Roberto
- Pironi, Loris
- Accarino, Anna
- Cenacchi, Giovanna
- D'Alessandro, Roberto
- Filosto, Massimiliano
- Martí, Ramon
- Nonino, Francesco
- Pinna, Antonio Daniele
- Baldin, Elisa
- Bax, Bridget Elizabeth
- Bolletta, Alessio
- Bolletta, Riccardo
- Boschetti, Elisa
- Cescon, Matteo
- D'Angelo, Roberto
- Dotti, Maria Teresa
- Giordano, Carla
- Gramegna, Laura Ludovica
- Levene, Michelle
- Lodi, Raffaele
- Mandel, Hanna
- Morelli, Maria Cristina
- Musumeci, Olimpia
- Pugliese, Alessia
- Scarpelli, Mauro
- Siniscalchi, Antonio
- Spinazzola, Antonella
- Tal, Galit
- Torres‐Torronteras, Javier
- Vignatelli, Luca
- Zaidman, Irina
- Zoller, Heinz
- Rinaldi, Rita
- Zeviani, Massimo
2021
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American journal of human genetics, 2014-12, Vol.95 (6), p.708-720
- Kopajtich, Robert
- Nicholls, Thomas J.
- Rorbach, Joanna
- Metodiev, Metodi D.
- Freisinger, Peter
- Mandel, Hanna
- Vanlander, Arnaud
- Ghezzi, Daniele
- Carrozzo, Rosalba
- Taylor, Robert W.
- Marquard, Klaus
- Murayama, Kei
- Wieland, Thomas
- Schwarzmayr, Thomas
- Mayr, Johannes A.
- Pearce, Sarah F.
- Powell, Christopher A.
- Saada, Ann
- Ohtake, Akira
- Invernizzi, Federica
- Lamantea, Eleonora
- Sommerville, Ewen W.
- Pyle, Angela
- Chinnery, Patrick F.
- Crushell, Ellen
- Okazaki, Yasushi
- Kohda, Masakazu
- Kishita, Yoshihito
- Tokuzawa, Yoshimi
- Assouline, Zahra
- Rio, Marlène
- Feillet, François
- Mousson de Camaret, Bénédict
- Chretien, Dominique
- Munnich, Arnold
- Menten, Björn
- Sante, Tom
- Smet, Joél
- Régal, Luc
- Lorber, Abraham
- Khoury, Asaad
- Zeviani, Massimo
- Strom, Tim M.
- Meitinger, Thomas
- Bertini, Enrico S.
- Van Coster, Rudy
- Klopstock, Thomas
- Rötig, Agnès
- Haack, Tobias B.
- Minczuk, Michal
- Prokisch, Holger
2014
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Genetics in medicine, 2022-03, Vol.24 (3), p.S335-S336
2022
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Clinical therapeutics, 2008, Vol.30, p.S9-S10
2008
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Clinical therapeutics, 2007, Vol.29, p.S109-S110
2007
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The New England journal of medicine, 2017-07, Vol.377 (1), p.87-89
2017
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The Journal of biological chemistry, 2004-04, Vol.279 (17), p.17792-17800
2004
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The Journal of biological chemistry, 2001-09, Vol.276 (39), p.36550-36556
2001
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Human genetics, 2015-03, Vol.134 (3), p.315-315
2015
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Nature communications, 2018-10, Vol.9 (1), p.1-14, Article 4065
- Friederich, Marisa W.
- Timal, Sharita
- Powell, Christopher A.
- Dallabona, Cristina
- Kurolap, Alina
- Palacios-Zambrano, Sara
- Bratkovic, Drago
- Derks, Terry G. J.
- Bick, David
- Bouman, Katelijne
- Chatfield, Kathryn C.
- Damouny-Naoum, Nadine
- Dishop, Megan K.
- Falik-Zaccai, Tzipora C.
- Fares, Fuad
- Fedida, Ayalla
- Ferrero, Ileana
- Gallagher, Renata C.
- Garesse, Rafael
- Gilberti, Micol
- González, Cristina
- Gowan, Katherine
- Habib, Clair
- Halligan, Rebecca K.
- Kalfon, Limor
- Knight, Kaz
- Lefeber, Dirk
- Mamblona, Laura
- Mandel, Hanna
- Mory, Adi
- Ottoson, John
- Paperna, Tamar
- Pruijn, Ger J. M.
- Rebelo-Guiomar, Pedro F.
- Saada, Ann
- Sainz, Bruno
- Salvemini, Hayley
- Schoots, Mirthe H.
- Smeitink, Jan A.
- Szukszto, Maciej J.
- ter Horst, Hendrik J.
- van den Brandt, Frans
- van Spronsen, Francjan J.
- Veltman, Joris A.
- Wartchow, Eric
- Wintjes, Liesbeth T.
- Zohar, Yaniv
- Fernández-Moreno, Miguel A.
- Baris, Hagit N.
- Donnini, Claudia
- Minczuk, Michal
- Rodenburg, Richard J.
- Van Hove, Johan L. K.
2018
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Journal of human genetics, 2017-05, Vol.62 (5), p.587-587
2017
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EMBO molecular medicine, 2017-03, Vol.9 (3), p.319-336
- Falik‐Zaccai, Tzipora C
- Barsheshet, Yiftah
- Mandel, Hanna
- Segev, Meital
- Lorber, Avraham
- Gelberg, Shachaf
- Kalfon, Limor
- Ben Haroush, Shani
- Shalata, Adel
- Gelernter‐Yaniv, Liat
- Chaim, Sarah
- Raviv Shay, Dorith
- Khayat, Morad
- Werbner, Michal
- Levi, Inbar
- Shoval, Yishay
- Tal, Galit
- Shalev, Stavit
- Reuveni, Eli
- Avitan‐Hersh, Emily
- Vlodavsky, Eugene
- Appl‐Sarid, Liat
- Goldsher, Dorit
- Bergman, Reuven
- Segal, Zvi
- Bitterman‐Deutsch, Ora
- Avni, Orly
2017
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EMBO molecular medicine, 2017-09, Vol.9 (9), p.1326-1326
- Falik‐Zaccai, Tzipora C
- Barsheshet, Yiftah
- Mandel, Hanna
- Segev, Meital
- Lorber, Avraham
- Gelberg, Shachaf
- Kalfon, Limor
- Ben Haroush, Shani
- Shalata, Adel
- Gelernter‐Yaniv, Liat
- Chaim, Sarah
- Raviv Shay, Dorith
- Khayat, Morad
- Werbner, Michal
- Levi, Inbar
- Shoval, Yishay
- Tal, Galit
- Shalev, Stavit
- Reuveni, Eli
- Avitan‐Hersh, Emily
- Vlodavsky, Eugene
- Appl‐Sarid, Liat
- Goldsher, Dorit
- Bergman, Reuven
- Segal, Zvi
- Bitterman‐Deutsch, Ora
- Avni, Orly
2017
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Annals of neurology, 2001-02, Vol.49 (2), p.195-201
2001
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Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.583-584
- Magner, Martin
- Dvorakova, Veronika
- Tesarova, Marketa
- Mazurova, Stella
- Hansikova, Hana
- Zahorec, Martin
- Brennerova, Katarina
- Bzduch, Vladimir
- Spiegel, Ronen
- Horovitz, Yoseph
- Mandel, Hanna
- Eminoğlu, Fatma Tuba
- Mayr, Johannes Adalbert
- Koch, Johannes
- Martinelli, Diego
- Bertini, Enrico
- Konstantopoulou, Vassiliki
- Smet, Joél
- Rahman, Shamima
- Broomfield, Alexander
- Stojanović, Vesna
- Dionisi-Vici, Carlo
- van Coster, Rudy
- Morava, Eva
- Sperl, Wolfgang
- Zeman, Jiri
- Honzik, Tomas
2015
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Journal of neuromuscular diseases, 2015, Vol.2 (s1), p.S40-S40
2015
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Journal of neuromuscular diseases, 2015, Vol.2 (s1), p.S65-S66
2015
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Circulation (New York, N.Y.), 2018-11, Vol.138 (Suppl_1 Suppl 1), p.A13360-A13360
2018
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PLoS genetics, 2011-12, Vol.7 (12)
- Lefeber, Dirk J
- Brouwer, P Mde
- Morava, Eva
- Riemersma, Moniek
- Schuurs-Hoeijmakers, Janneke HM
- Absmanner, Birgit
- Verrijp, Kiek
- Akker, R vanden
- Huijben, Karin
- Steenbergen, Gerry
- Reeuwijk, Jeroen van
- Jozwiak, Adam
- Zucker, Nili
- Lorber, Avraham
- Lammens, Martin
- Knopf, Carlos
- Bokhoven, Hans van
- Grünewald, Stephanie
- Lehle, Ludwig
- Kapusta, Livia
- Mandel, Hanna
- Wevers, Ron A
2011
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