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Annals of neurology, 2018-04, Vol.83 (4), p.703-717
2018
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Human molecular genetics, 2010-04, Vol.19 (7), p.1263-1275
2010
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Genome Research, 2009-09, Vol.19 (9), p.1682-1690
- Shaikh, Tamim H
- Gai, Xiaowu
- Perin, Juan C
- Glessner, Joseph T
- Xie, Hongbo
- Murphy, Kevin
- O'Hara, Ryan
- Casalunovo, Tracy
- Conlin, Laura K
- D'Arcy, Monica
- Frackelton, Edward C
- Geiger, Elizabeth A
- Haldeman-Englert, Chad
- Imielinski, Marcin
- Kim, Cecilia E
- Medne, Livija
- Annaiah, Kiran
- Bradfield, Jonathan P
- Dabaghyan, Elvira
- Eckert, Andrew
- Onyiah, Chioma C
- Ostapenko, Svetlana
- Otieno, F George
- Santa, Erin
- Shaner, Julie L
- Skraban, Robert
- Smith, Ryan M
- Elia, Josephine
- Goldmuntz, Elizabeth
- Spinner, Nancy B
- Zackai, Elaine H
- Chiavacci, Rosetta M
- Grundmeier, Robert
- Rappaport, Eric F
- Grant, Struan F A
- White, Peter S
- Hakonarson, Hakon
2009
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Genetics in medicine, 2020-02, Vol.22 (2), p.423-426
2020
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Genetics in medicine, 2020-02, Vol.22 (2), p.389-397
- Weiss, Karin
- Lazar, Hayley P
- Kurolap, Alina
- Martinez, Ariel F
- Paperna, Tamar
- Cohen, Lior
- Smeland, Marie F
- Whalen, Sandra
- Heide, Solveig
- Keren, Boris
- Terhal, Pauline
- Irving, Melita
- Takaku, Motoki
- Roberts, John D
- Petrovich, Robert M
- Schrier Vergano, Samantha A
- Kenney, Amy
- Hove, Hanne
- DeChene, Elizabeth
- Quinonez, Shane C
- Colin, Estelle
- Ziegler, Alban
- Rumple, Melissa
- Jain, Mahim
- Monteil, Danielle
- Roeder, Elizabeth R
- Nugent, Kimberly
- van Haeringen, Arie
- Gambello, Michael
- Santani, Avni
- Medne, Līvija
- Krock, Bryan
- Skraban, Cara M
- Zackai, Elaine H
- Dubbs, Holly A
- Smol, Thomas
- Ghoumid, Jamal
- Parker, Michael J
- Wright, Michael
- Turnpenny, Peter
- Clayton-Smith, Jill
- Metcalfe, Kay
- Kurumizaka, Hitoshi
- Gelb, Bruce D
- Baris Feldman, Hagit
- Campeau, Philippe M
- Muenke, Maximilian
- Wade, Paul A
- Lachlan, Katherine
2020
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The American journal of occupational therapy, 2018-03, Vol.72 (2), p.5
2018
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The Journal of molecular diagnostics : JMD, 2019-01, Vol.21 (1), p.38-48
- Baker, Samuel W.
- Murrell, Jill R.
- Nesbitt, Addie I.
- Pechter, Kieran B.
- Balciuniene, Jorune
- Zhao, Xiaonan
- Yu, Zhenming
- Denenberg, Elizabeth H.
- DeChene, Elizabeth T.
- Wilkens, Alisha B.
- Bhoj, Elizabeth J.
- Guan, Qiaoning
- Dulik, Matthew C.
- Conlin, Laura K.
- Abou Tayoun, Ahmad N.
- Luo, Minjie
- Wu, Chao
- Cao, Kajia
- Sarmady, Mahdi
- Bedoukian, Emma C.
- Tarpinian, Jennifer
- Medne, Livija
- Skraban, Cara M.
- Deardorff, Matthew A.
- Krantz, Ian D.
- Krock, Bryan L.
- Santani, Avni B.
2019
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BMC medical informatics and decision making, 2022-07, Vol.22 (Suppl 2), p.198-198, Article 198
2022
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Neurology, 2013-04, Vol.80 (17), p.1584
2013
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Orphanet journal of rare diseases, 2013-08, Vol.8 (1), p.117-117, Article 117
2013
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American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2703-2710
2010
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American journal of medical genetics. Part A, 2019-07, Vol.179 (7), p.1126-1138
- Raible, Sarah E.
- Mehta, Devanshi
- Bettale, Chiara
- Fiordaliso, Sarah
- Kaur, Maninder
- Medne, Livija
- Rio, Marlene
- Haan, Eric
- White, Susan M.
- Cusmano‐Ozog, Kristina
- Nishi, Eriko
- Guo, Yiran
- Wu, Honglin
- Shi, Xiaoqing
- Zhao, Qingjie
- Zhang, Xueqin
- Lei, Qi
- Lu, Aimei
- He, Xiyu
- Okamoto, Nobuhiko
- Miyake, Noriko
- Piccione, Joseph
- Allen, Julian
- Matsumoto, Naomichi
- Pipan, Mary
- Krantz, Ian D.
- Izumi, Kosuke
2019
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Nature genetics, 2007-09, Vol.39 (9), p.1071-1073
- Shaffer, Lisa G
- Ballif, Blake C
- Hornor, Sara A
- Jenkins, Elizabeth
- Madan-Khetarpal, Suneeta
- Surti, Urvashi
- Jackson, Kelly E
- Asamoah, Alexander
- Brock, Pamela L
- Gowans, Gordon C
- Conway, Robert L
- Graham, John M
- Medne, Livija
- Zackai, Elaine H
- Shaikh, Tamim H
- Geoghegan, Joel
- Selzer, Rebecca R
- Eis, Peggy S
- Bejjani, Bassem A
2007
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Neuromuscular disorders : NMD, 2010-08, Vol.20 (8), p.499-504
- Soltanzadeh, Payam
- Friez, Michael J
- Dunn, Diane
- von Niederhausern, Andrew
- Gurvich, Olga L
- Swoboda, Kathryn J
- Sampson, Jacinda B
- Pestronk, Alan
- Connolly, Anne M
- Florence, Julaine M
- Finkel, Richard S
- Bönnemann, Carsten G
- Medne, Livija
- Mendell, Jerry R
- Mathews, Katherine D
- Wong, Brenda L
- Sussman, Michael D
- Zonana, Jonathan
- Kovak, Karen
- Gospe, Sidney M
- Gappmaier, Eduard
- Taylor, Laura E
- Howard, Michael T
- Weiss, Robert B
- Flanigan, Kevin M
2010
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American journal of human genetics, 2007-08, Vol.81 (2), p.292-303
2007
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American journal of medical genetics. Part A, 2014-11, Vol.164A (11), p.2879-2886
2014
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Epileptic disorders, 2014-03, Vol.16 (1), p.13-18
2014
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Neuromuscular disorders : NMD, 2017-11, Vol.27 (11), p.975-985
- Neto, Osorio Abath
- de Araújo Martins Moreno, Cristiane
- Malfatti, Edoardo
- Donkervoort, Sandra
- Böhm, Johann
- Guimarães, Júlio Brandão
- Foley, A. Reghan
- Mohassel, Payam
- Dastgir, Jahannaz
- Bharucha-Goebel, Diana Xerxes
- Monges, Soledad
- Lubieniecki, Fabiana
- Collins, James
- Medne, Līvija
- Santi, Mariarita
- Yum, Sabrina
- Banwell, Brenda
- Salort-Campana, Emmanuelle
- Rendu, John
- Fauré, Julien
- Yis, Uluc
- Eymard, Bruno
- Cheraud, Chrystel
- Schneider, Raphaël
- Thompson, Julie
- Lornage, Xaviere
- Mesrob, Lilia
- Lechner, Doris
- Boland, Anne
- Deleuze, Jean-François
- Reed, Umbertina Conti
- Oliveira, Acary Souza Bulle
- Biancalana, Valérie
- Romero, Norma B
- Bönemann, Carsten G
- Laporte, Jocelyn
- Zanoteli, Edmar
2017
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Annals of neurology, 2008-01, Vol.63 (1), p.81-89
2008
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American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3137-3143
2013
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Pediatric neurology, 2013-05, Vol.48 (5), p.367-377
- Mirzaa, Ghayda M., MD
- Paciorkowski, Alex R., MD
- Marsh, Eric D., MD
- Berry-Kravis, Elizabeth M., MD, PhD
- Medne, Livija, MS
- Grix, Art, MD
- Wirrell, Elaine C., MD
- Powell, Berkley R., MD
- Nickels, Katherine C., MD
- Burton, Barbara, MD
- Paras, Andrea, MS
- Kim, Katherine, MS
- Chung, Wendy, MD
- Dobyns, William B., MD
- Das, Soma, PhD
2013
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Annals of clinical and translational neurology, 2023-08, Vol.10 (8), p.1442-1455
- Mohassel, Payam
- Yun, Pomi
- Syeda, Safoora
- Batra, Abhinandan
- Bradley, Andrew J.
- Donkervoort, Sandra
- Monges, Soledad
- Cohen, Julie S.
- Leung, Doris G.
- Munell, Francina
- Ortez, Carlos
- Sánchez‐Montáñez, Angel
- Karachunski, Peter
- Brandsema, John
- Medne, Livija
- Chaudhry, Vinay
- Tasca, Giorgio
- Foley, A. Reghan
- Udd, Bjarne
- Arai, Andrew E.
- Walter, Glenn A.
- Bönnemann, Carsten G.
2023
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Annals of clinical and translational neurology, 2019-10, Vol.6 (10), p.1980-1988
- Mohassel, Payam
- Liewluck, Teerin
- Hu, Ying
- Ezzo, Daniel
- Ogata, Tracy
- Saade, Dimah
- Neuhaus, Sarah
- Bolduc, Véronique
- Zou, Yaqun
- Donkervoort, Sandra
- Medne, Livija
- Sumner, Charlotte J.
- Dyck, P. James B.
- Wierenga, Klaas J.
- Tennekoon, Gihan
- Finkel, Richard S.
- Chen, Jiani
- Winder, Thomas L.
- Staff, Nathan P.
- Foley, A. Reghan
- Koch, Manuel
- Bönnemann, Carsten G.
2019
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100499, Article 100499
- DiStefano, Marina
- Webb, Ryan
- McCurry, Hannah
- McNulty Gray, Shannon
- Tomar, Swati
- Kopparapu, Prasad
- Broeren, Eleanor
- Tshering, Kezang
- Beggs, Alan
- Bertini, Enrico Silvio
- D'Amico, Adele
- Donkervoort, Sandra
- Dowling, James
- Fattori, Fabiana
- Ferreiro, Ana
- Genetti, Casie
- Gonorazky, Hernan
- Gorokhova, Svetlana
- Lindy, Amanda
- Medne, Livija
- Pajusalu, Sander
- Pelin, Katarina
- Rendu, John
- Vatta, Matteo
- Winder, Tom
- Yang, Hui
- Yoon, Grace
- Ceyhan-Birsoy, Ozge
- Bönnemann, Carsten
2023
Link zum Volltext
Annals of neurology, 2011-01, Vol.69 (1), p.206-211
2011
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