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Chest, 2015-09, Vol.148 (3), p.667-673
2015
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Chest, 2015-09, Vol.148 (3), p.667-673
2015
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Annals of neurology, 2016-02, Vol.79 (2), p.257-271
2016
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Neuromuscular disorders : NMD, 2018-02, Vol.28 (2), p.103-115
- Mercuri, Eugenio
- Finkel, Richard S.
- Muntoni, Francesco
- Wirth, Brunhilde
- Montes, Jacqueline
- Main, Marion
- Mazzone, Elena S.
- Vitale, Michael
- Snyder, Brian
- Quijano-Roy, Susana
- Bertini, Enrico
- Davis, Rebecca Hurst
- Meyer, Oscar H.
- Simonds, Anita K.
- Schroth, Mary K.
- Graham, Robert J.
- Kirschner, Janbernd
- Iannaccone, Susan T.
- Crawford, Thomas O.
- Woods, Simon
- Qian, Ying
- Sejersen, Thomas
- Tiziano, Francesco Danilo
- Tizzano, Eduardo
- Topaloglu, Haluk
- Swoboda, Kathy
- Laing, Nigel
- Kayoko, Saito
- Prior, Thomas
- Chung, Wendy K.
- Wu, Shou-Mei
- Mazzone, Elena
- Coleman, Caron
- Gee, Richard
- Glanzman, Allan
- Kroksmark, Anna-Karin
- Krosschell, Kristin
- Nelson, Leslie
- Rose, Kristy
- Stępień, Agnieszka
- Vuillerot, Carole
- Dubousset, Jean
- Farrington, David
- Flynn, Jack
- Halanski, Matthew
- Hasler, Carol
- Miladi, Lotfi
- Reilly, Christopher
- Roye, Benjamin
- Sponseller, Paul
- Yazici, Muharrem
- Hurst, Rebecca
- Tarrant, Stacey
- Barja, Salesa
- Bertoli, Simona
- Crawford, Thomas
- Foust, Kevin
- Kyle, Barbara
- Rodan, Lance
- Roper, Helen
- Seffrood, Erin
- Swoboda, Kathryn
- Szlagatys-Sidorkiewicz, Agnieszka
2018
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PloS one, 2019-03, Vol.14 (3), p.e0214250
- Kahn-Kirby, Amanda H
- Amagata, Akiko
- Maeder, Celine I
- Mei, Janet J
- Sideris, Steve
- Kosaka, Yuko
- Hinman, Andrew
- Malone, Stephanie A
- Bruegger, Joel J
- Wang, Leslie
- Kim, Virna
- Shrader, William D
- Hoff, Kevin G
- Latham, Joey C
- Ashley, Euan A
- Wheeler, Matthew T
- Bertini, Enrico
- Carrozzo, Rosalba
- Martinelli, Diego
- Dionisi-Vici, Carlo
- Chapman, Kimberly A
- Enns, Gregory M
- Gahl, William
- Wolfe, Lynne
- Saneto, Russell P
- Johnson, Simon C
- Trimmer, Jeffrey K
- Klein, Matthew B
- Holst, Charles R
- Biagini, Giuseppe
2019
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The Journal of clinical investigation, 2020-01, Vol.130 (1), p.108-125
- Del Dotto, Valentina
- Ullah, Farid
- Di Meo, Ivano
- Magini, Pamela
- Gusic, Mirjana
- Maresca, Alessandra
- Caporali, Leonardo
- Palombo, Flavia
- Tagliavini, Francesca
- Baugh, Evan Harris
- Macao, Bertil
- Szilagyi, Zsolt
- Peron, Camille
- Gustafson, Margaret A
- Khan, Kamal
- La Morgia, Chiara
- Barboni, Piero
- Carbonelli, Michele
- Valentino, Maria Lucia
- Liguori, Rocco
- Shashi, Vandana
- Sullivan, Jennifer
- Nagaraj, Shashi
- El-Dairi, Mays
- Iannaccone, Alessandro
- Cutcutache, Ioana
- Bertini, Enrico
- Carrozzo, Rosalba
- Emma, Francesco
- Diomedi-Camassei, Francesca
- Zanna, Claudia
- Armstrong, Martin
- Page, Matthew
- Stong, Nicholas
- Boesch, Sylvia
- Kopajtich, Robert
- Wortmann, Saskia
- Sperl, Wolfgang
- Davis, Erica E
- Copeland, William C
- Seri, Marco
- Falkenberg, Maria
- Prokisch, Holger
- Katsanis, Nicholas
- Tiranti, Valeria
- Pippucci, Tommaso
- Carelli, Valerio
2020
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American journal of human genetics, 2013-07, Vol.93 (1), p.29-41
- Carss, Keren J.
- Stevens, Elizabeth
- Foley, A. Reghan
- Cirak, Sebahattin
- Riemersma, Moniek
- Torelli, Silvia
- Hoischen, Alexander
- Willer, Tobias
- van Scherpenzeel, Monique
- Moore, Steven A.
- Messina, Sonia
- Bertini, Enrico
- Bönnemann, Carsten G.
- Abdenur, Jose E.
- Grosmann, Carla M.
- Kesari, Akanchha
- Punetha, Jaya
- Quinlivan, Ros
- Waddell, Leigh B.
- Young, Helen K.
- Wraige, Elizabeth
- Yau, Shu
- Brodd, Lina
- Feng, Lucy
- Sewry, Caroline
- MacArthur, Daniel G.
- North, Kathryn N.
- Hoffman, Eric
- Stemple, Derek L.
- Hurles, Matthew E.
- van Bokhoven, Hans
- Campbell, Kevin P.
- Lefeber, Dirk J.
- Lin, Yung-Yao
- Muntoni, Francesco
2013
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Annals of neurology, 2023-10, Vol.94 (4), p.696-712
2023
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Neuromuscular disorders : NMD, 2014-02, Vol.24 (2), p.97-116
2014
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Nature genetics, 2009-07, Vol.41 (7), p.829-832
- Bodemer, Christine
- Vanderver, Adeline
- Bertini, Enrico
- Hamel, Ben C J
- van der Knaap, Marjo S
- Heiberg, Arvid
- Orcesi, Simona
- Tan, Tiong Y
- Lagae, Lieven
- Manfield, Iain W
- Whittaker, Elizabeth
- Lamb, Teresa
- Gornall, Hannah
- Cazorla, Angels Garcia
- Rice, Gillian I
- Hunter, Matthew
- Shalev, Stavit A
- Marom, Daphna
- Rasmussen, Magnhild
- Desguerre, Isabelle
- Crow, Yanick J
- Lourenco, Charles M
- Bonthron, David T
- Ali, Manir
- Fuller, Jonathan C
- Soler, Doriette M
- Bond, Jacquelyn
- Jackson, Richard M
- Couthard, Lydia R
- Wakeling, Emma L
- Gener, Blanca
- Brockmann, Knut
- Landrieu, Pierre G
- Fazzi, Elisa
- Carr, Ian M
- van der Merwe, William
- Shinawi, Marwan
- Kumar, Ram
- Spiegel, Ronen
- Briggs, Tracy A
- Attard-Montalto, Simon P
- Asipu, Aruna
- Brueton, Louise A
- Wassmer, Evangeline
- Brunette, Rebecca L
- Lebon, Pierre
- Stetson, Daniel B
- McDermott, Michael F
- Aeby, Alec
- Corry, Peter C
- Prendiville, Julie S
2009
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American journal of human genetics, 2023-05, Vol.110 (5), p.774-789
- Tepe, Burak
- Cogne, Benjamin
- Neil, Jennifer E.
- Walsh, Christopher A.
- Magal, Nurit
- Drasinover, Valerie
- Schwab, Tanya
- Schmitz, Chris
- Clark, Karl
- Blanc, Pierre
- Bademci, Guney
- Balasubramanyam, Ashok
- Baldridge, Dustin
- Bayrak-Toydemir, Pinar
- Beck, Anita
- Behrens, Edward
- Bican, Anna
- Bivona, Stephanie
- Blue, Elizabeth
- Boyd, Brenna
- Briere, Lauren C.
- Brown, Gabrielle
- Byers, Peter
- Byrd, William E.
- Carey, John
- Clark, Gary D.
- Coakley, Terra R.
- Colley, Heather A.
- Craigen, William J.
- Cunningham, Michael
- Dasari, Surendra
- Dayal, Jyoti G.
- Deardorff, Matthew
- Dipple, Katrina
- Doherty, Daniel
- Doss, Argenia L.
- Emrick, Lisa T.
- Fernandez, Liliana
- Forghani, Irman
- Glass, Ian
- Gochuico, Bernadette
- Golden-Grant, Katie
- Goldrich, Madison P.
- Gutierrez, Irma
- Hamid, Rizwan
- Hayes, Nichole
- Hom, Jason
- Horike-Pyne, Martha
- Isasi, Rosario
- Jarvik, Jeffrey
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Kiley, Dana
- Kobren, Shilpa N.
- Krasnewich, Donna M.
- LeBlanc, Kimberly
- Levitt, Roy
- Mahoney, Rachel
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Mao, Rong
- Maravilla, Kenneth
- Marom, Ronit
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- Merritt, J. Lawrence
- Morava, Eva
- Newman, John H.
- Nickerson, Deborah
- Novacic, Donna
- Oglesbee, Devin
- Pace, Laura
- Palmer, Christina GS
- Papp, Jeanette C.
- Rao, Deepak A.
- Renteria, Genecee
- Reuter, Chloe M.
- Robertson, Amy K.
- Rosenfeld, Jill A.
- Rossignol, Francis
- Ruzhnikov, Maura
- Scott, C. Ron
- Shin, Jimann
- Sinsheimer, Janet S.
- Sullivan, Jennifer A.
- Sun, Angela
- Tabor, Holly K.
- Telischi, Fred
- Toro, Camilo
- Tucker, Brianna M.
- Urv, Tiina K.
- Vogel, Tiphanie P.
- Walker, Melissa
- Wangler, Michael F.
- Perry, Katherine Wesseling
- Westerfield, Monte
- Wolfe, Lynne A.
- Worley, Kim
- Xiao, Changrui
- Zuchner, Stephan
2023
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Cancer medicine (Malden, MA), 2023-09, Vol.12 (17), p.17753-17765
- Noh, Sungryong
- Bertini, Christopher
- Mira-Avendano, Isabel
- Kaous, Maryam
- Patel, Bela
- Faiz, Saadia A
- Shannon, Vickie R
- Balachandran, Diwakar D
- Bashoura, Lara
- Adachi, Roberto
- Evans, Scott E
- Dickey, Burton
- Wu, Carol
- Shroff, Girish S
- Manzano, Joanna-Grace
- Granwehr, Bruno
- Holloway, Shannon
- Dickson, Kodwo
- Mohammed, Alyssa
- Muthu, Mayoora
- Song, Hui
- Chung, Caroline
- Wu, Jia
- Lee, Lyndon
- Jiang, Ying
- Khawaja, Fareed
- Sheshadri, Ajay
2023
Volltextzugriff (PDF)
American journal of human genetics, 2013-07, Vol.93 (1), p.29
- Carss, Keren J
- Stevens, Elizabeth
- Foley, A Reghan
- Cirak, Sebahattin
- Riemersma, Moniek
- Torelli, Silvia
- Hoischen, Alexander
- Willer, Tobias
- van Scherpenzeel, Monique
- Moore, Steven A
- Messina, Sonia
- Bertini, Enrico
- Bönnemann, Carsten G
- Abdenur, Jose E
- Grosmann, Carla M
- Kesari, Akanchha
- Punetha, Jaya
- Quinlivan, Ros
- Waddell, Leigh B
- Young, Helen K
- Wraige, Elizabeth
- Yau, Shu
- Brodd, Lina
- Feng, Lucy
- Sewry, Caroline
- MacArthur, Daniel G
- North, Kathryn N
- Hoffman, Eric
- Stemple, Derek L
- Hurles, Matthew E
- van Bokhoven, Hans
- Campbell, Kevin P
- Lefeber, Dirk J
- Lin, Yung-Yao
- Muntoni, Francesco
2013
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Power, Freedom, and Voting, 2008, p.83-98
2008
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