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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Annals of clinical and translational neurology, 2022-07, Vol.9 (7), p.1011-1026
2022
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Journal of human genetics, 2009-02, Vol.54 (2), p.98-107
2009
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The Journal of clinical investigation, 2024-06, Vol.134 (12), p.1-16
- Maio, Nunziata
- Orbach, Rotem
- Zaharieva, Irina T
- Topf, Ana
- Donkervoort, Sandra
- Munot, Pinki
- Mueller, Juliane
- Willis, Tracey
- Verma, Sumit
- Peric, Stojan
- Krishnakumar, Deepa
- Sudhakar, Sniya
- Foley, A. Reghan
- Silverstein, Sarah
- Douglas, Ganka
- Pais, Lynn
- DiTroia, Stephanie
- Grunseich, Christopher
- Hu, Ying
- Sewry, Caroline
- Sarkozy, Anna
- Straub, Volker
- Muntoni, Francesco
- Rouault, Tracey A
- Bonnemann, Carsten G
2024
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Acta neuropathologica, 2017-04, Vol.133 (4), p.517-533
- Schartner, Vanessa
- Romero, Norma B.
- Donkervoort, Sandra
- Treves, Susan
- Munot, Pinki
- Pierson, Tyler Mark
- Dabaj, Ivana
- Malfatti, Edoardo
- Zaharieva, Irina T.
- Zorzato, Francesco
- Abath Neto, Osorio
- Brochier, Guy
- Lornage, Xavière
- Eymard, Bruno
- Taratuto, Ana Lía
- Böhm, Johann
- Gonorazky, Hernan
- Ramos-Platt, Leigh
- Feng, Lucy
- Phadke, Rahul
- Bharucha-Goebel, Diana X.
- Sumner, Charlotte Jane
- Bui, Mai Thao
- Lacene, Emmanuelle
- Beuvin, Maud
- Labasse, Clémence
- Dondaine, Nicolas
- Schneider, Raphael
- Thompson, Julie
- Boland, Anne
- Deleuze, Jean-François
- Matthews, Emma
- Pakleza, Aleksandra Nadaj
- Sewry, Caroline A.
- Biancalana, Valérie
- Quijano-Roy, Susana
- Muntoni, Francesco
- Fardeau, Michel
- Bönnemann, Carsten G.
- Laporte, Jocelyn
2017
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Brain (London, England : 1878), 2016-03, Vol.139 (Pt 3), p.674-691
- Zaharieva, Irina T
- Thor, Michael G
- Oates, Emily C
- van Karnebeek, Clara
- Hendson, Glenda
- Blom, Eveline
- Witting, Nanna
- Rasmussen, Magnhild
- Gabbett, Michael T
- Ravenscroft, Gianina
- Sframeli, Maria
- Suetterlin, Karen
- Sarkozy, Anna
- D'Argenzio, Luigi
- Hartley, Louise
- Matthews, Emma
- Pitt, Matthew
- Vissing, John
- Ballegaard, Martin
- Krarup, Christian
- Slørdahl, Andreas
- Halvorsen, Hanne
- Ye, Xin Cynthia
- Zhang, Lin-Hua
- Løkken, Nicoline
- Werlauff, Ulla
- Abdelsayed, Mena
- Davis, Mark R
- Feng, Lucy
- Phadke, Rahul
- Sewry, Caroline A
- Morgan, Jennifer E
- Laing, Nigel G
- Vallance, Hilary
- Ruben, Peter
- Hanna, Michael G
- Lewis, Suzanne
- Kamsteeg, Erik-Jan
- Männikkö, Roope
- Muntoni, Francesco
2016
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Nature communications, 2022-04, Vol.13 (1), p.2306-18, Article 2306
- Kim, Hong Joo
- Mohassel, Payam
- Donkervoort, Sandra
- Guo, Lin
- O'Donovan, Kevin
- Coughlin, Maura
- Lornage, Xaviere
- Foulds, Nicola
- Hammans, Simon R
- Foley, A Reghan
- Fare, Charlotte M
- Ford, Alice F
- Ogasawara, Masashi
- Sato, Aki
- Iida, Aritoshi
- Munot, Pinki
- Ambegaonkar, Gautam
- Phadke, Rahul
- O'Donovan, Dominic G
- Buchert, Rebecca
- Grimmel, Mona
- Töpf, Ana
- Zaharieva, Irina T
- Brady, Lauren
- Hu, Ying
- Lloyd, Thomas E
- Klein, Andrea
- Steinlin, Maja
- Kuster, Alice
- Mercier, Sandra
- Marcorelles, Pascale
- Péréon, Yann
- Fleurence, Emmanuelle
- Manzur, Adnan
- Ennis, Sarah
- Upstill-Goddard, Rosanna
- Bello, Luca
- Bertolin, Cinzia
- Pegoraro, Elena
- Salviati, Leonardo
- French, Courtney E
- Shatillo, Andriy
- Raymond, F Lucy
- Haack, Tobias B
- Quijano-Roy, Susana
- Böhm, Johann
- Nelson, Isabelle
- Stojkovic, Tanya
- Evangelista, Teresinha
- Straub, Volker
- Romero, Norma B
- Laporte, Jocelyn
- Muntoni, Francesco
- Nishino, Ichizo
- Tarnopolsky, Mark A
- Shorter, James
- Bönnemann, Carsten G
- Taylor, J Paul
2022
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Nature genetics, 2024-03, Vol.56 (3), p.395-407
- Töpf, Ana
- Cox, Dan
- Zaharieva, Irina T
- Di Leo, Valeria
- Sarparanta, Jaakko
- Jonson, Per Harald
- Sealy, Ian M
- Smolnikov, Andrei
- White, Richard J
- Vihola, Anna
- Savarese, Marco
- Merteroglu, Munise
- Wali, Neha
- Laricchia, Kristen M
- Venturini, Cristina
- Vroling, Bas
- Stenton, Sarah L
- Cummings, Beryl B
- Harris, Elizabeth
- Marini-Bettolo, Chiara
- Diaz-Manera, Jordi
- Henderson, Matt
- Barresi, Rita
- Duff, Jennifer
- England, Eleina M
- Patrick, Jane
- Al-Husayni, Sundos
- Biancalana, Valerie
- Beggs, Alan H
- Bodi, Istvan
- Bommireddipalli, Shobhana
- Bönnemann, Carsten G
- Cairns, Anita
- Chiew, Mei-Ting
- Claeys, Kristl G
- Cooper, Sandra T
- Davis, Mark R
- Donkervoort, Sandra
- Erasmus, Corrie E
- Fassad, Mahmoud R
- Genetti, Casie A
- Grosmann, Carla
- Jungbluth, Heinz
- Kamsteeg, Erik-Jan
- Lornage, Xavière
- Löscher, Wolfgang N
- Malfatti, Edoardo
- Manzur, Adnan
- Martí, Pilar
- Mongini, Tiziana E
- Muelas, Nuria
- Nishikawa, Atsuko
- O'Donnell-Luria, Anne
- Ogonuki, Narumi
- O'Grady, Gina L
- O'Heir, Emily
- Paquay, Stéphanie
- Phadke, Rahul
- Pletcher, Beth A
- Romero, Norma B
- Schouten, Meyke
- Shah, Snehal
- Smuts, Izelle
- Sznajer, Yves
- Tasca, Giorgio
- Taylor, Robert W
- Tuite, Allysa
- Van den Bergh, Peter
- VanNoy, Grace
- Voermans, Nicol C
- Wanschitz, Julia V
- Wraige, Elizabeth
- Yoshimura, Kimihiko
- Oates, Emily C
- Nakagawa, Osamu
- Nishino, Ichizo
- Laporte, Jocelyn
- Vilchez, Juan J
- MacArthur, Daniel G
- Sarkozy, Anna
- Cordell, Heather J
- Udd, Bjarne
- Busch-Nentwich, Elisabeth M
- Muntoni, Francesco
- Straub, Volker
2024
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Human molecular genetics, 2018-12, Vol.27 (24), p.4263-4272
- Ravenscroft, Gianina
- Zaharieva, Irina T
- Bortolotti, Carlo A
- Lambrughi, Matteo
- Pignataro, Marcello
- Borsari, Marco
- Sewry, Caroline A
- Phadke, Rahul
- Haliloglu, Goknur
- Ong, Royston
- Goullée, Hayley
- Whyte, Tamieka
- Consortium, UK10K
- Manzur, Adnan
- Talim, Beril
- Kaya, Ulkuhan
- Osborn, Daniel P S
- Forrest, Alistair R R
- Laing, Nigel G
- Muntoni, Francesco
2018
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Human mutation, 2018-12, Vol.39 (12), p.1980-1994
- Zaharieva, Irina T.
- Sarkozy, Anna
- Munot, Pinki
- Manzur, Adnan
- O'Grady, Gina
- Rendu, John
- Malfatti, Eduardo
- Amthor, Helge
- Servais, Laurent
- Urtizberea, J. Andoni
- Neto, Osorio Abath
- Zanoteli, Edmar
- Donkervoort, Sandra
- Taylor, Juliet
- Dixon, Joanne
- Poke, Gemma
- Foley, A. Reghan
- Holmes, Chris
- Williams, Glyn
- Holder, Muriel
- Yum, Sabrina
- Medne, Livija
- Quijano‐Roy, Susana
- Romero, Norma B.
- Fauré, Julien
- Feng, Lucy
- Bastaki, Laila
- Davis, Mark R.
- Phadke, Rahul
- Sewry, Caroline A.
- Bönnemann, Carsten G.
- Jungbluth, Heinz
- Bachmann, Christoph
- Treves, Susan
- Muntoni, Francesco
2018
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Human mutation, 2022-04, Vol.43 (4), p.487-498
- Natera‐de Benito, Daniel
- Jurgens, Julie A.
- Yeung, Alison
- Zaharieva, Irina T.
- Manzur, Adnan
- DiTroia, Stephanie P.
- Di Gioia, Silvio Alessandro
- Pais, Lynn
- Pini, Veronica
- Barry, Brenda J.
- Chan, Wai‐Man
- Elder, James E.
- Christodoulou, John
- Hay, Eleanor
- England, Eleina M.
- Munot, Pinki
- Hunter, David G.
- Feng, Lucy
- Ledoux, Danielle
- O'Donnell‐Luria, Anne
- Phadke, Rahul
- Engle, Elizabeth C.
- Sarkozy, Anna
- Muntoni, Francesco
2022
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PloS one, 2013-11, Vol.8 (11), p.e80263-e80263
2013
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Psychiatric genetics, 2013-02, Vol.23 (1), p.11-19
2013
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1325-1331
- Zurek, Birte
- Ellwanger, Kornelia
- Vissers, Lisenka E L M
- Schüle, Rebecca
- Synofzik, Matthis
- Töpf, Ana
- de Voer, Richarda M
- Laurie, Steven
- Matalonga, Leslie
- Gilissen, Christian
- Ossowski, Stephan
- 't Hoen, Peter A C
- Vitobello, Antonio
- Schulze-Hentrich, Julia M
- Riess, Olaf
- Brunner, Han G
- Brookes, Anthony J
- Rath, Ana
- Bonne, Gisèle
- Gumus, Gulcin
- Verloes, Alain
- Hoogerbrugge, Nicoline
- Evangelista, Teresinha
- Harmuth, Tina
- Swertz, Morris
- Spalding, Dylan
- Hoischen, Alexander
- Beltran, Sergi
- Graessner, Holm
2021
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1348-1353
2021
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Genetics in medicine, 2023-04, Vol.25 (4), p.100018-100018, Article 100018
- Banka, Siddharth
- Ciolfi, Andrea
- Dallapiccola, Bruno
- Gilissen, Christian
- López-Martín, Estrella
- Ryba, Lukas
- Tartaglia, Marco
- Thevenon, Julien
- Tran Mau-Them, Frédéric
- Votypka, Pavel
- Faivre, Laurence
- Jackson, Adam
- Kleefstra, Tjitske
- Santen, Gijs W.E.
- Verloes, Alain
- Gao, Fei
- Johari, Mridul
- Morsy, Heba
- Robinson, Peter
- Zurek, Birte
- Kegele, Josua
- Scheffer, Hans
- van de Warrenburg, Bart
- Steehouwer, Marloes
- Maddi, Vatsalya
- Riaz, Umar
- Dizjikan, Farid Yavari
- Straub, Volker
- Papakonstantinou, Anastasios
- Corvo, Alberto
- Fernandez-Callejo, Marcos
- Gumus, Gulcin
- Lagorce, David
- Durr, Alexandra
- Davoine, Claire-Sophie
- Guillot-Noel, Léna
- Evangelista, Teresinha
- Metay, Corinne
- Eymard, Bruno
- Thomas, Coline
- Spalding, Dylan
- Magrinelli, Francesca
- Sisodiya, Sanjay M.
- Zaharieva, Irina
- de Jonghe, Peter
- Van de Vondel, Liedewei
- De Ridder, Willem
- Mutarelli, Margherita
- Varavallo, Alessandra
- Banfi, Sandro
- Piluso, Giulio
- Rossi, Rachele
- Matos, Ana Rita
- Gullo, Irene
- Fernandes, Susana
- Zonneveld-Huijssoon, Eveline
- van Gijn, Marielle
- Mignot, Cyril
- Lacombe, Didier
- Holinski-Feder, Elke
- Cilio, Maria-Roberta
- Depondt, Chantal
- Lederer, Damien
- Mary, Sandrine
- Pérez-Dueñas, Belén
- Masó, Laura Batlle
- Hemelsoet, Dimitri
- Depienne, Christel
- Iacomino, Michele
- Scala, Marcello
- Bourbouli, Mara
- Radio, Francesca Clementina
- De la Paz, Manuel Posada
- Alonso García de la Rosa, F. Javier
- Guerrini, Renzo
- Chinnery, Patrick F.
- Schon, Katherine
- Münchau, Alexander
- Pauly, Martje
- Toutain, Annick
- Molin, Arnaud
- Jouret, Béatrice
- Laudier, Béatrice
- Bonniaud, Bertille
- Paul, Carle
- Schaefer, Élise
- Colin, Estelle
- Prieur, Fabienne
- Alessandri, Jean-Luc
- Martinovic, Jelena
- Lambert, Laëtitia
- Bournez, Marie
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2023
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1332-1336
2021
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Neuromuscular disorders : NMD, 2019-08, Vol.29 (8), p.644-650
- Donkervoort, Sandra
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- Zaharieva, Irina
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2019
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The Lancet (British edition), 2010-10, Vol.376 (9750), p.1401-1408
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2010
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Molecules (Basel, Switzerland), 2024-09, Vol.29 (17), p.4005
2024
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Molecular therapy. Nucleic acids, 2016-07, Vol.5 (7), p.e331-e331, Article e331
2016
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European journal of human genetics : EJHG, 2020-06, Vol.28 (6), p.815-825
- Spitali, Pietro
- Zaharieva, Irina
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2020
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Neuromuscular disorders : NMD, 2019-06, Vol.29 (6), p.448-455
2019
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Materials letters, 2023-09, Vol.346, p.134554, Article 134554
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Biological psychiatry (1969), 2010-02, Vol.67 (3), p.283-286
2010
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Bioautomation, 2020-03, Vol.24 (1), p.5-14
2020
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