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Lancet neurology, 2014-07, Vol.13 (7), p.710-726
2014
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JAMA pediatrics, 2017-03, Vol.171 (3), p.288
2017
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Brain (London, England : 1878), 2012-05, Vol.135 (5), p.1348-1369
2012
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Molecular syndromology, 2016-09, Vol.7 (4), p.220-233
2016
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Brain (London, England : 1878), 2015-06, Vol.138 (Pt 6), p.1613-1628
2015
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Nature neuroscience, 2021-08, Vol.24 (8), p.1163
- Aldinger, Kimberly A
- Thomson, Zachary
- Phelps, Ian G
- Haldipur, Parthiv
- Deng, Mei
- Timms, Andrew E
- Hirano, Matthew
- Santpere, Gabriel
- Roco, Charles
- Rosenberg, Alexander B
- Lorente-Galdos, Belen
- Gulden, Forrest O
- O'Day, Diana
- Overman, Lynne M
- Lisgo, Steven N
- Alexandre, Paula
- Sestan, Nenad
- Doherty, Dan
- Dobyns, William B
- Seelig, Georg
- Glass, Ian A
- Millen, Kathleen J
2021
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Cell, 2014-09, Vol.159 (1), p.200-214
- Yamamoto, Shinya
- Jaiswal, Manish
- Charng, Wu-Lin
- Gambin, Tomasz
- Karaca, Ender
- Mirzaa, Ghayda
- Wiszniewski, Wojciech
- Sandoval, Hector
- Haelterman, Nele A.
- Xiong, Bo
- Zhang, Ke
- Bayat, Vafa
- David, Gabriela
- Li, Tongchao
- Chen, Kuchuan
- Gala, Upasana
- Harel, Tamar
- Pehlivan, Davut
- Penney, Samantha
- Vissers, Lisenka E.L.M.
- de Ligt, Joep
- Jhangiani, Shalini N.
- Xie, Yajing
- Tsang, Stephen H.
- Parman, Yesim
- Sivaci, Merve
- Battaloglu, Esra
- Muzny, Donna
- Wan, Ying-Wooi
- Liu, Zhandong
- Lin-Moore, Alexander T.
- Clark, Robin D.
- Curry, Cynthia J.
- Link, Nichole
- Schulze, Karen L.
- Boerwinkle, Eric
- Dobyns, William B.
- Allikmets, Rando
- Gibbs, Richard A.
- Chen, Rui
- Lupski, James R.
- Wangler, Michael F.
- Bellen, Hugo J.
2014
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American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1473-1488
2017
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Science (American Association for the Advancement of Science), 2019-10, Vol.366 (6464), p.454-460
- Haldipur, Parthiv
- Aldinger, Kimberly A
- Bernardo, Silvia
- Deng, Mei
- Timms, Andrew E
- Overman, Lynne M
- Winter, Conrad
- Lisgo, Steven N
- Razavi, Ferechte
- Silvestri, Evelina
- Manganaro, Lucia
- Adle-Biassette, Homa
- Guimiot, Fabien
- Russo, Rosa
- Kidron, Debora
- Hof, Patrick R
- Gerrelli, Dianne
- Lindsay, Susan J
- Dobyns, William B
- Glass, Ian A
- Alexandre, Paula
- Millen, Kathleen J
2019
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Trends in neurosciences (Regular ed.), 2008-03, Vol.31 (3), p.154-162
2008
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Pediatric neurology, 2011-12, Vol.45 (6), p.355-367
2011
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Epilepsia (Copenhagen), 2010-02, Vol.51 (s1), p.5-9
2010
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American journal of human genetics, 2014-04, Vol.94 (4), p.634-641
2014
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American journal of human genetics, 2013-03, Vol.92 (3), p.468-474
2013
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Cell reports (Cambridge), 2016-10, Vol.17 (3), p.735-747
2016
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Nature genetics, 2012-05, Vol.44 (5), p.575-580
- WILLER, Tobias
- LEE, Hane
- MUNTONI, Francesco
- LODER, Andrea S
- DOBYNS, William B
- WINDER, Thomas L
- STRAHL, Sabine
- MATHEWS, Katherine D
- NELSON, Stanley F
- MOORE, Steven A
- CAMPBELL, Kevin P
- LOMMEL, Mark
- YOSHIDA-MORIGUCHI, Takako
- BERNABE, Daniel Beltran Valero De
- VENZKE, David
- CIRAK, Sebahattin
- SCHACHTER, Harry
- VAJSAR, Jiri
- VOIT, Thomas
2012
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Human genetics, 2014-08, Vol.133 (8), p.1023-1039
2014
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American journal of human genetics, 2013-03, Vol.92 (3), p.354-365
- Stevens, Elizabeth
- Carss, Keren J.
- Cirak, Sebahattin
- Foley, A. Reghan
- Torelli, Silvia
- Willer, Tobias
- Tambunan, Dimira E.
- Yau, Shu
- Brodd, Lina
- Sewry, Caroline A.
- Feng, Lucy
- Haliloglu, Goknur
- Orhan, Diclehan
- Dobyns, William B.
- Enns, Gregory M.
- Manning, Melanie
- Krause, Amanda
- Salih, Mustafa A.
- Walsh, Christopher A.
- Hurles, Matthew
- Campbell, Kevin P.
- Manzini, M. Chiara
- Stemple, Derek
- Lin, Yung-Yao
- Muntoni, Francesco
2013
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PLoS genetics, 2018-05, Vol.14 (5), p.e1007281-e1007281
2018
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Nature reviews. Neurology, 2020-11, Vol.16 (11), p.618-635
- Oegema, Renske
- Barakat, Tahsin Stefan
- Wilke, Martina
- Stouffs, Katrien
- Amrom, Dina
- Aronica, Eleonora
- Bahi-Buisson, Nadia
- Conti, Valerio
- Fry, Andrew E
- Geis, Tobias
- Andres, David Gomez
- Parrini, Elena
- Pogledic, Ivana
- Said, Edith
- Soler, Doriette
- Valor, Luis M
- Zaki, Maha S
- Mirzaa, Ghayda
- Dobyns, William B
- Reiner, Orly
- Guerrini, Renzo
- Pilz, Daniela T
- Hehr, Ute
- Leventer, Richard J
- Jansen, Anna C
- Mancini, Grazia M S
- Di Donato, Nataliya
2020
Link zum Volltext
American journal of human genetics, 2017-07, Vol.101 (1), p.23-36
- Van De Weghe, Julie C.
- Rusterholz, Tamara D.S.
- Latour, Brooke
- Grout, Megan E.
- Aldinger, Kimberly A.
- Shaheen, Ranad
- Dempsey, Jennifer C.
- Maddirevula, Sateesh
- Cheng, Yong-Han H.
- Phelps, Ian G.
- Gesemann, Matthias
- Goel, Himanshu
- Birk, Ohad S.
- Alanzi, Talal
- Rawashdeh, Rifaat
- Khan, Arif O.
- Bamshad, Michael J.
- Nickerson, Deborah A.
- Neuhauss, Stephan C.F.
- Dobyns, William B.
- Alkuraya, Fowzan S.
- Roepman, Ronald
- Bachmann-Gagescu, Ruxandra
- Doherty, Dan
2017
Link zum Volltext
Brain (London, England : 1878), 2013-02, Vol.136 (Pt 2), p.536-548
2013
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The Journal of pediatrics, 2016-11, Vol.178, p.233-240.e10
2016
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American journal of human genetics, 2015-04, Vol.96 (4), p.682-690
2015
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The Journal of clinical investigation, 2014-11, Vol.124 (11), p.4877-4881
2014
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