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Journal of neurology, 2012-11, Vol.259 (11), p.2434-2439
2012
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European journal of neurology, 2017-05, Vol.24 (5), p.741-747
2017
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BMC pediatrics, 2020-11, Vol.20 (1), p.518-518, Article 518
2020
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Clinical genetics, 2018-02, Vol.93 (2), p.255-265
2018
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European journal of paediatric neurology, 2017-05, Vol.21 (3), p.530-541
2017
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American journal of human genetics, 2016-06, Vol.98 (6), p.1130-1145
- Olsen, Rikke K.J.
- Koňaříková, Eliška
- Giancaspero, Teresa A.
- Mosegaard, Signe
- Boczonadi, Veronika
- Mataković, Lavinija
- Veauville-Merllié, Alice
- Terrile, Caterina
- Schwarzmayr, Thomas
- Haack, Tobias B.
- Auranen, Mari
- Leone, Piero
- Galluccio, Michele
- Imbard, Apolline
- Gutierrez-Rios, Purificacion
- Palmfeldt, Johan
- Graf, Elisabeth
- Vianey-Saban, Christine
- Oppenheim, Marcus
- Schiff, Manuel
- Pichard, Samia
- Rigal, Odile
- Pyle, Angela
- Chinnery, Patrick F.
- Konstantopoulou, Vassiliki
- Möslinger, Dorothea
- Feichtinger, René G.
- Talim, Beril
- Topaloglu, Haluk
- Coskun, Turgay
- Gucer, Safak
- Botta, Annalisa
- Pegoraro, Elena
- Malena, Adriana
- Vergani, Lodovica
- Mazzà, Daniela
- Zollino, Marcella
- Ghezzi, Daniele
- Acquaviva, Cecile
- Tyni, Tiina
- Boneh, Avihu
- Meitinger, Thomas
- Strom, Tim M.
- Gregersen, Niels
- Mayr, Johannes A.
- Horvath, Rita
- Barile, Maria
- Prokisch, Holger
2016
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Neuropediatrics, 2024-04, Vol.55 (2), p.140
2024
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Human molecular genetics, 2023-10, Vol.32 (20), p.2981-2995
- Liu, Zhigang
- Xin, Baozhong
- Smith, Iris N
- Sency, Valerie
- Szekely, Julia
- Alkelai, Anna
- Shuldiner, Alan
- Efthymiou, Stephanie
- Rajabi, Farrah
- Coury, Stephanie
- Brownstein, Catherine A
- Rudnik-Schöneborn, Sabine
- Bruel, Ange-Line
- Thevenon, Julien
- Zeidler, Shimriet
- Jayakar, Parul
- Schmidt, Axel
- Cremer, Kirsten
- Engels, Hartmut
- Peters, Sophia O
- Zaki, Maha S
- Duan, Ruizhi
- Zhu, Changlian
- Xu, Yiran
- Gao, Chao
- Sepulveda-Morales, Tania
- Maroofian, Reza
- Alkhawaja, Issam A
- Khawaja, Mariam
- Alhalasah, Hunaida
- Houlden, Henry
- Madden, Jill A
- Turchetti, Valentina
- Marafi, Dana
- Agrawal, Pankaj B
- Schatz, Ulrich
- Rotenberg, Ari
- Rotenberg, Joshua
- Mancini, Grazia M S
- Bakhtiari, Somayeh
- Kruer, Michael
- Thiffault, Isabelle
- Hirsch, Steffen
- Hempel, Maja
- Stühn, Lara G
- Haack, Tobias B
- Posey, Jennifer E
- Lupski, James R
- Lee, Hyunpil
- Sarn, Nicholas B
- Eng, Charis
- Gonzaga-Jauregui, Claudia
- Zhang, Bin
- Wang, Heng
2023
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Neurology, 2021-03, Vol.96 (9), p.e1369
- Traschütz, Andreas
- Cortese, Andrea
- Reich, Selina
- Dominik, Natalia
- Faber, Jennifer
- Jacobi, Heike
- Hartmann, Annette M
- Rujescu, Dan
- Montaut, Solveig
- Echaniz-Laguna, Andoni
- Erer, Sevda
- Schütz, Valerie Cornelia
- Tarnutzer, Alexander A
- Sturm, Marc
- Haack, Tobias B
- Vaucamps-Diedhiou, Nadège
- Puccio, Helene
- Schöls, Ludger
- Klockgether, Thomas
- van de Warrenburg, Bart P
- Paucar, Martin
- Timmann, Dagmar
- Hilgers, Ralf-Dieter
- Gazulla, Jose
- Strupp, Michael
- Moris, German
- Filla, Alessandro
- Houlden, Henry
- Anheim, Mathieu
- Infante, Jon
- Basak, A Nazli
- Synofzik, Matthis
2021
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American journal of human genetics, 2016-09, Vol.99 (3), p.735-743
- Haack, Tobias B.
- Ignatius, Erika
- Calvo-Garrido, Javier
- Iuso, Arcangela
- Isohanni, Pirjo
- Maffezzini, Camilla
- Lönnqvist, Tuula
- Suomalainen, Anu
- Gorza, Matteo
- Kremer, Laura S.
- Graf, Elisabeth
- Hartig, Monika
- Berutti, Riccardo
- Paucar, Martin
- Svenningsson, Per
- Stranneheim, Henrik
- Brandberg, Göran
- Wedell, Anna
- Kurian, Manju A.
- Hayflick, Susan A.
- Venco, Paola
- Tiranti, Valeria
- Strom, Tim M.
- Dichgans, Martin
- Horvath, Rita
- Holinski-Feder, Elke
- Freyer, Christoph
- Meitinger, Thomas
- Prokisch, Holger
- Senderek, Jan
- Wredenberg, Anna
- Carroll, Christopher J.
- Klopstock, Thomas
2016
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Brain (London, England : 1878), 2016-02, Vol.139 (Pt 2), p.346-354
2016
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Annals of neurology, 2017-12, Vol.82 (6), p.1004-1015
- Maas, Roeltje R.
- Iwanicka‐Pronicka, Katarzyna
- Kalkan Ucar, Sema
- Alhaddad, Bader
- AlSayed, Moeenaldeen
- Al‐Owain, Mohammed A.
- Al‐Zaidan, Hamad I.
- Balasubramaniam, Shanti
- Barić, Ivo
- Bubshait, Dalal K.
- Burlina, Alberto
- Christodoulou, John
- Chung, Wendy K.
- Colombo, Roberto
- Darin, Niklas
- Freisinger, Peter
- Garcia Silva, Maria Teresa
- Grunewald, Stephanie
- Haack, Tobias B.
- van Hasselt, Peter M.
- Hikmat, Omar
- Hörster, Friederike
- Isohanni, Pirjo
- Ramzan, Khushnooda
- Kovacs‐Nagy, Reka
- Krumina, Zita
- Martin‐Hernandez, Elena
- Mayr, Johannes A.
- McClean, Patricia
- De Meirleir, Linda
- Naess, Karin
- Ngu, Lock H.
- Pajdowska, Magdalena
- Rahman, Shamima
- Riordan, Gillian
- Riley, Lisa
- Roeben, Benjamin
- Rutsch, Frank
- Santer, Rene
- Schiff, Manuel
- Seders, Martine
- Sequeira, Silvia
- Sperl, Wolfgang
- Staufner, Christian
- Synofzik, Matthis
- Taylor, Robert W.
- Trubicka, Joanna
- Tsiakas, Konstantinos
- Unal, Ozlem
- Wassmer, Evangeline
- Wedatilake, Yehani
- Wolff, Toni
- Prokisch, Holger
- Morava, Eva
- Pronicka, Ewa
- Wevers, Ron A.
- de Brouwer, Arjan P.
- Wortmann, Saskia B.
2017
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Genetics in medicine, 2021-05, Vol.23 (5), p.888-899
- Rodríguez-Palmero, Agustí
- Boerrigter, Melissa Maria
- Gómez-Andrés, David
- Aldinger, Kimberly A
- Marcos-Alcalde, Íñigo
- Popp, Bernt
- Everman, David B
- Lovgren, Alysia Kern
- Arpin, Stephanie
- Bahrambeigi, Vahid
- Beunders, Gea
- Bisgaard, Anne-Marie
- Bjerregaard, V A
- Bruel, Ange-Line
- Challman, Thomas D
- Cogné, Benjamin
- Coubes, Christine
- de Man, Stella A
- Denommé-Pichon, Anne-Sophie
- Dye, Thomas J
- Elmslie, Frances
- Feuk, Lars
- García-Miñaúr, Sixto
- Gertler, Tracy
- Giorgio, Elisa
- Gruchy, Nicolas
- Haack, Tobias B
- Haldeman-Englert, Chad R
- Haukanes, Bjørn Ivar
- Hoyer, Juliane
- Hurst, Anna C E
- Isidor, Bertrand
- Soller, Maria Johansson
- Kushary, Sulagna
- Kvarnung, Malin
- Landau, Yuval E
- Leppig, Kathleen A
- Lindstrand, Anna
- Kleinendorst, Lotte
- MacKenzie, Alex
- Mandrile, Giorgia
- Mendelsohn, Bryce A
- Moghadasi, Setareh
- Morton, Jenny E
- Moutton, Sebastien
- Müller, Amelie J
- O'Leary, Melanie
- Pacio-Míguez, Marta
- Palomares-Bralo, Maria
- Parikh, Sumit
- Pfundt, Rolph
- Pode-Shakked, Ben
- Rauch, Anita
- Repnikova, Elena
- Revah-Politi, Anya
- Ross, Meredith J
- Ruivenkamp, Claudia A L
- Sarrazin, Elisabeth
- Savatt, Juliann M
- Schlüter, Agatha
- Schönewolf-Greulich, Bitten
- Shad, Zohra
- Shaw-Smith, Charles
- Shieh, Joseph T
- Shohat, Motti
- Spranger, Stephanie
- Thiese, Heidi
- Mau-Them, Frederic Tran
- van Bon, Bregje
- van de Burgt, Ineke
- van de Laar, Ingrid M B H
- van Drie, Esmée
- van Haelst, Mieke M
- van Ravenswaaij-Arts, Conny M
- Verdura, Edgard
- Vitobello, Antonio
- Waldmüller, Stephan
- Whiting, Sharon
- Zweier, Christiane
- Prada, Carlos E
- de Vries, Bert B A
- Dobyns, William B
- Reiter, Simone F
- Gómez-Puertas, Paulino
- Pujol, Aurora
- Tümer, Zeynep
2021
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Acta neuropathologica, 2014-09, Vol.128 (3), p.397-410
- van der Zee, Julie
- Van Langenhove, Tim
- Kovacs, Gabor G.
- Dillen, Lubina
- Deschamps, William
- Engelborghs, Sebastiaan
- Matěj, Radoslav
- Vandenbulcke, Mathieu
- Sieben, Anne
- Dermaut, Bart
- Smets, Katrien
- Van Damme, Philip
- Merlin, Céline
- Laureys, Annelies
- Van Den Broeck, Marleen
- Mattheijssens, Maria
- Peeters, Karin
- Benussi, Luisa
- Binetti, Giuliano
- Ghidoni, Roberta
- Borroni, Barbara
- Padovani, Alessandro
- Archetti, Silvana
- Pastor, Pau
- Razquin, Cristina
- Ortega-Cubero, Sara
- Hernández, Isabel
- Boada, Mercè
- Ruiz, Agustín
- de Mendonça, Alexandre
- Miltenberger-Miltényi, Gabriel
- do Couto, Frederico Simões
- Sorbi, Sandro
- Nacmias, Benedetta
- Bagnoli, Silvia
- Graff, Caroline
- Chiang, Huei-Hsin
- Thonberg, Håkan
- Perneczky, Robert
- Diehl-Schmid, Janine
- Alexopoulos, Panagiotis
- Frisoni, Giovanni B.
- Bonvicini, Christian
- Synofzik, Matthis
- Maetzler, Walter
- vom Hagen, Jennifer Müller
- Schöls, Ludger
- Haack, Tobias B.
- Strom, Tim M.
- Prokisch, Holger
- Dols-Icardo, Oriol
- Clarimón, Jordi
- Lleó, Alberto
- Santana, Isabel
- Almeida, Maria Rosário
- Santiago, Beatriz
- Heneka, Michael T.
- Jessen, Frank
- Ramirez, Alfredo
- Sanchez-Valle, Raquel
- Llado, Albert
- Gelpi, Ellen
- Sarafov, Stayko
- Tournev, Ivailo
- Jordanova, Albena
- Parobkova, Eva
- Fabrizi, Gian Maria
- Testi, Silvia
- Salmon, Eric
- Ströbel, Thomas
- Santens, Patrick
- Robberecht, Wim
- De Jonghe, Peter
- Martin, Jean-Jacques
- Cras, Patrick
- Vandenberghe, Rik
- De Deyn, Peter Paul
- Cruts, Marc
- Sleegers, Kristel
- Van Broeckhoven, Christine
2014
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EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, Vol.30 (SUPPL 1), p.236
- Denomme-Pichon, AS
- de Boer, E
- Jackson, A
- Benetti, E
- Banka, S
- Casari, G
- Ciolfi, A
- Clayton-Smith, J
- Dallapiccola, B
- Ellwanger, K
- Faivre, L
- Gilissen, C
- Graessner, H
- Haack, TB
- Hammarsjo, A
- Havlovicova, M
- Hoischen, A
- Hugon, A
- Kleefstra, T
- Lindstrand, A
- Lopez-Martin, E
- Macek, M
- Matalonga, L
- Morleo, M
- Nigro, V
- Nordgren, A
- Pettersson, M
- Pinelli, M
- Pizzi, S
- Posada, M
- Radio, FC
- Renieri, A
- Rooryck, C
- Ryba, L
- Schwarz, M
- Tartaglia, M
- Thauvin, C
- Torella, A
- Trimouille, A
- Votypka, P
- Vyshka, K
- Zurek, B
- Verloes, A
- Vitobello, A
- Vissers, L
2022
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Monatsschrift Kinderheilkunde, 2011-09, Vol.159 (9), p.827-833
2011
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Clinical genetics, 2017, Vol.92 (5), p.561-562
2017
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European journal of human genetics : EJHG, 2024-05, Vol.32 (8), p.998-1004
2024
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1359-1368
2021
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European journal of human genetics : EJHG, 2021-09, Vol.29 (9), p.1470-1471
2021
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American journal of human genetics, 2016-12, Vol.99 (6), p.1377-1387
2016
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American journal of human genetics, 2012-06, Vol.90 (6), p.1079-1087
2012
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European journal of heart failure, 2020-05, Vol.22 (5), p.884-892
2020
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American journal of human genetics, 2014-01, Vol.94 (1), p.11-22
- Dusi, Sabrina
- Valletta, Lorella
- Haack, Tobias B.
- Tsuchiya, Yugo
- Venco, Paola
- Pasqualato, Sebastiano
- Goffrini, Paola
- Tigano, Marco
- Demchenko, Nikita
- Wieland, Thomas
- Schwarzmayr, Thomas
- Strom, Tim M.
- Invernizzi, Federica
- Garavaglia, Barbara
- Gregory, Allison
- Sanford, Lynn
- Hamada, Jeffrey
- Bettencourt, Conceição
- Houlden, Henry
- Chiapparini, Luisa
- Zorzi, Giovanna
- Kurian, Manju A.
- Nardocci, Nardo
- Prokisch, Holger
- Hayflick, Susan
- Gout, Ivan
- Tiranti, Valeria
2014
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Molecular cell, 2023-02, Vol.83 (3), p.332-334
2023
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