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Internationale Schulbuchforschung, 1998, Vol.20 (4), p.440-443
1998
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Acta ophthalmologica (Oxford, England), 2020-09, Vol.98 (6), p.592-602
2020
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
- Howrigan, Daniel P.
- Abbott, Liam E.
- Tashman, Katherine
- Singh, Tarjinder
- Watts, Nick
- Lal, Dennis
- Hakonarson, Hakon
- Weckhuysen, Sarah
- Petrovski, Slavé
- Cossette, Patrick
- Cotsapas, Chris
- De Jonghe, Peter
- Guerrini, Renzo
- Marson, Anthony G.
- Depondt, Chantal
- Striano, Pasquale
- Freyer, Catharine
- Regan, Brigid M.
- Leu, Costin
- Johns, Esther M.C.
- Macdonald, Alexandra
- Bahlo, Melanie
- Todaro, Marian
- Stamberger, Hannah
- Sadoway, Tara R.
- Kousiappa, Ioanna
- Tanteles, George A.
- Štěrbová, Katalin
- Kunz, Wolfram S.
- Zsurka, Gábor
- Elger, Christian E.
- Rademacher, Michael
- van Baalen, Andreas
- von Spiczak, Sarah
- Afawi, Zaid
- Canavati, Christina
- Kluger, Gerhard
- Blatt, Ilan
- Weber, Yvonne G.
- Wolking, Stefan
- Rau, Sarah
- Steinhoff, Bernhard J.
- Schulze-Bonhage, Andreas
- Borggräfe, Ingo
- Madeleyn, Rene
- Kälviäinen, Reetta
- Linnankivi, Tarja
- Chung, Seo-Kyung
- Balestrini, Simona
- Braatz, Vera
- Johnson, Michael R.
- Auce, Pauls
- Sham, Pak C.
- Lui, Colin H.T.
- Doherty, Colin P.
- Shukralla, Arif
- El-Naggar, Hany
- Vari, Maria Stella
- Salpietro, Vincenzo
- Tinuper, Paolo
- Gagliardi, Monica
- Montomoli, Martino
- Doccini, Viola
- Inoue, Yushi
- Yamakawa, Kazuhiro
- Tumiene, Birute
- Sadleir, Lynette G.
- Caglayan, S. Hande
- Arslan, Mutluay
- Yis, Uluc
- Topaloglu, Pınar
- Baykan, Betül
- Salman, Barış
- Haryanyan, Garen
- Özkara, Çiğdem
- Poduri, Annapurna
- Shiedley, Beth R.
- Shain, Catherine
- French, Jacqueline A.
- Kuzniecky, Ruben I.
- Hegde, Manu
- Helbig, Katherine L.
- Piras, Federica
- Reif, Andreas
- McQuillin, Andrew
- Johnstone, Mandy
- Palotie, Aarno
- Carvalho, Celia Barreto
- Achtyes, Eric D.
- Azevedo, Maria Helena
- Kotov, Roman
- Lehrer, Douglas S.
- Marder, Stephen R.
- Medeiros, Helena
- Morley, Christopher P.
- Rapaport, Mark H.
- Knowles, James A.
- McCarroll, Steven A.
- Lowenstein, Daniel H.
- Goldstein, David B.
2019
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American journal of human genetics, 2014-10, Vol.95 (4), p.360-370
- Appenzeller, Silke
- Balling, Rudi
- Barisic, Nina
- Baulac, Stéphanie
- Caglayan, Hande
- De Jonghe, Peter
- Depienne, Christel
- Dimova, Petia
- Djémié, Tania
- Gormley, Padhraig
- Guerrini, Renzo
- Helbig, Ingo
- Hjalgrim, Helle
- Jähn, Johanna
- Klein, Karl Martin
- Koeleman, Bobby
- Komarek, Vladimir
- Krause, Roland
- Kuhlenbäumer, Gregor
- Lemke, Johannes R.
- Lerche, Holger
- Linnankivi, Tarja
- Marini, Carla
- May, Patrick
- Møller, Rikke S.
- Muhle, Hiltrud
- Palotie, Aarno
- Pendziwiat, Manuela
- Roelens, Filip
- Rosenow, Felix
- Selmer, Kaja
- Serratosa, Jose M.
- Sisodiya, Sanjay
- Stephani, Ulrich
- Sterbova, Katalin
- Striano, Pasquale
- Suls, Arvid
- Talvik, Tiina
- von Spiczak, Sarah
- Weckhuysen, Sarah
- Abou-Khalil, Bassel
- Alldredge, Brian K.
- Andermann, Eva
- Andermann, Frederick
- Amron, Dina
- Bautista, Jocelyn F.
- Berkovic, Samuel F.
- Bluvstein, Judith
- Boro, Alex
- Consalvo, Damian
- Crumrine, Patricia
- Devinsky, Orrin
- Dlugos, Dennis
- Epstein, Michael P.
- Fiol, Miguel
- French, Jacqueline
- Friedman, Daniel
- Geller, Eric B.
- Glauser, Tracy
- Glynn, Simon
- Haas, Kevin
- Haut, Sheryl R.
- Hayward, Jean
- Helmers, Sandra L.
- Joshi, Sucheta
- Kanner, Andres
- Knowlton, Robert C.
- Kossoff, Eric H.
- Kuperman, Rachel
- Kuzniecky, Ruben
- Lowenstein, Daniel H.
- Motika, Paul V.
- Novotny, Edward J.
- Ottman, Ruth
- Paolicchi, Juliann M.
- Parent, Jack
- Park, Kristen
- Scheffer, Ingrid E.
- Shellhaas, Renée A.
- Sherr, Elliott
- Singh, Rani
- Smith, Michael C.
- Sullivan, Joe
- Venkat, Anu
- Vining, Eileen P.G.
- Von Allmen, Gretchen K.
- Weisenberg, Judith L.
- Winawer, Melodie R.
- Cossette, Patrick
- Delanty, Norman
- Eichler, Evan E.
- Goldstein, David B.
- Han, Yujun
- Heinzen, Erin L.
- Marson, Anthony G.
- Nieh, Sahar Esmaeeli
- O’Brien, Terence J.
- Petrou, Stephen
- Petrovski, Slavé
- Ruzzo, Elizabeth K.
2014
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The New England journal of medicine, 2015-06, Vol.372 (25), p.2409-2422
- Dobbs, Kerry
- Domínguez Conde, Cecilia
- Zhang, Shen-Ying
- Parolini, Silvia
- Audry, Magali
- Chou, Janet
- Haapaniemi, Emma
- Keles, Sevgi
- Bilic, Ivan
- Okada, Satoshi
- Massaad, Michel J
- Rounioja, Samuli
- Alwahadneh, Adel M
- Serwas, Nina K
- Capuder, Kelly
- Çiftçi, Ergin
- Felgentreff, Kerstin
- Ohsumi, Toshiro K
- Pedergnana, Vincent
- Boisson, Bertrand
- Haskoloğlu, Şule
- Ensari, Arzu
- Schuster, Michael
- Moretta, Alessandro
- Itan, Yuval
- Patrizi, Ornella
- Rozenberg, Flore
- Lebon, Pierre
- Saarela, Janna
- Knip, Mikael
- Petrovski, Slavé
- Goldstein, David B
- Parrott, Roberta E
- Savas, Berna
- Schambach, Axel
- Tabellini, Giovanna
- Bock, Christoph
- Chatila, Talal A
- Comeau, Anne Marie
- Geha, Raif S
- Abel, Laurent
- Buckley, Rebecca H
- İkincioğulları, Aydan
- Al-Herz, Waleed
- Helminen, Merja
- Doğu, Figen
- Casanova, Jean-Laurent
- Boztuğ, Kaan
- Notarangelo, Luigi D
2015
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Journal of clinical medicine, 2022-05, Vol.11 (11), p.3109
2022
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Acta ophthalmologica (Oxford, England), 2024-02
2024
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Acta ophthalmologica (Oxford, England), 2024-01, Vol.102 (S279)
2024
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American journal of human genetics, 2021-06, Vol.108 (6), p.965-982
- Povysil, Gundula
- Allen, Andrew S.
- Howrigan, Daniel P.
- Tashman, Katherine
- Cerrato, Felecia
- Cusick, Caroline
- Heyne, Henrike
- Churchhouse, Claire
- Watts, Nick
- Lal, Dennis
- Gupta, Namrata
- Cavalleri, Gianpiero L.
- Hakonarson, Hakon
- Marson, Anthony G.
- Petrovski, Slavé
- Sisodiya, Sanjay M.
- Depondt, Chantal
- Scheffer, Ingrid E.
- Krause, Roland
- Regan, Brigid M.
- Leu, Costin
- Leech, Stephanie L.
- Todaro, Marian
- Stamberger, Hannah
- Kousiappa, Ioanna
- Tanteles, George A.
- Christou, Yiolanda
- Laššuthová, Petra
- Knake, Susanne
- Kunz, Wolfram S.
- Zsurka, Gábor
- Surges, Rainer
- Rademacher, Annika
- von Spiczak, Sarah
- Kanaan, Moien
- Canavati, Christina
- Lemke, Johannes R.
- Krey, Ilona
- Weber, Yvonne G.
- Wolking, Stefan
- Kegele, Josua
- Borggräfe, Ingo
- Mayer, Thomas
- Brockmann, Knut
- Madeleyn, Rene
- Saarela, Anni
- Linnankivi, Tarja
- Lehesjoki, Anna-Elina
- Derambure, Philippe
- Hirsch, Edouard
- Chassoux, Francine
- Chung, Seo-Kyung
- Schneider, Natascha
- Balestrini, Simona
- Zagaglia, Sara
- Johnson, Michael R.
- Auce, Pauls
- Barišić, Nina
- Canafoglia, Laura
- Franceschetti, Silvana
- Castellotti, Barbara
- Granata, Tiziana
- Ragona, Francesca
- Iacomino, Michele
- Riva, Antonella
- Vari, Maria Stella
- Salpietro, Vincenzo
- Mancardi, Maria Margherita
- Nobili, Lino
- Bisulli, Francesca
- Pippucci, Tommaso
- Licchetta, Laura
- Tinuper, Paolo
- Gambardella, Antonio
- Labate, Angelo
- Annesi, Grazia
- Manna, Lorella
- Parrini, Elena
- Bianchini, Claudia
- Montomoli, Martino
- Hirose, Shinichi
- Yamakawa, Kazuhiro
- Beydoun, Ahmad
- Sadleir, Lynette G.
- Topaloglu, Pınar
- Baykan, Betül
- Özkara, YeşÇiğdem
- Ho, Chen-Jui
- Chou, I-Jun
- Shain, Catherine
- Goldman, Alicia
- Busch, Robyn M.
- Jehi, Lara
- Ferguson, Lisa
- Clark, Peggy O.
- Privitera, Michael
- Schachter, Steven
- Cosico, Mahgenn
- Lowenstein, Daniel H.
- Goldstein, David B.
2021
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Journal of diabetes research, 2020, Vol.2020, p.8849116-12
2020
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Acta ophthalmologica (Oxford, England), 2022-06, Vol.100 (4), p.388-394
2022
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Acta ophthalmologica (Oxford, England), 2020-12, Vol.98 (8), p.800-807
2020
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PloS one, 2016-11, Vol.11 (11), p.e0165883-e0165883
2016
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Acta ophthalmologica (Oxford, England), 2019-12, Vol.97 (S263), p.n/a
2019
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Acta ophthalmologica (Oxford, England), 2021
2021
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Pregnancy hypertension, 2021-09, Vol.25, p.e61-e62
2021
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American journal of human genetics, 2017-01, Vol.100 (1), p.179-179
- Appenzeller, Silke
- Balling, Rudi
- Barisic, Nina
- Baulac, Stéphanie
- Caglayan, Hande
- De Jonghe, Peter
- Depienne, Christel
- Dimova, Petia
- Djémié, Tania
- Gormley, Padhraig
- Guerrini, Renzo
- Helbig, Ingo
- Hjalgrim, Helle
- Jähn, Johanna
- Klein, Karl Martin
- Koeleman, Bobby
- Komarek, Vladimir
- Krause, Roland
- Kuhlenbäumer, Gregor
- Lerche, Holger
- Marini, Carla
- May, Patrick
- Møller, Rikke S.
- Muhle, Hiltrud
- Palotie, Aarno
- Pendziwiat, Manuela
- Roelens, Filip
- Rosenow, Felix
- Selmer, Kaja
- Serratosa, Jose M.
- Sisodiya, Sanjay
- Stephani, Ulrich
- Sterbova, Katalin
- Striano, Pasquale
- Suls, Arvid
- Talvik, Tiina
- von Spiczak, Sarah
- Weckhuysen, Sarah
- Abou-Khalil, Bassel
- Andermann, Eva
- Andermann, Frederick
- Amrom, Dina
- Bautista, Jocelyn F.
- Berkovic, Samuel F.
- Bluvstein, Judith
- Boro, Alex
- Consalvo, Damian
- Crumrine, Patricia
- Devinsky, Orrin
- Dlugos, Dennis
- Epstein, Michael P.
- Fiol, Miguel
- French, Jacqueline
- Friedman, Daniel
- Geller, Eric B.
- Glauser, Tracy
- Glynn, Simon
- Haas, Kevin
- Haut, Sheryl R.
- Hayward, Jean
- Helmers, Sandra L.
- Joshi, Sucheta
- Kanner, Andres
- Kirsch, Heidi E.
- Kossoff, Eric H.
- Kuperman, Rachel
- Kuzniecky, Ruben
- Lowenstein, Daniel H.
- McGuire, Shannon M.
- Motika, Paul V.
- Novotny, Edward J.
- Ottman, Ruth
- Paolicchi, Juliann M.
- Parent, Jack
- Park, Kristen
- Scheffer, Ingrid E.
- Shellhaas, Renée A.
- Sherr, Elliott
- Shih, Jerry J.
- Singh, Rani
- Sullivan, Joe
- Venkat, Anu
- Vining, Eileen P.G.
- Von Allmen, Gretchen K.
- Weisenberg, Judith L.
- Winawer, Melodie R.
- Allen, Andrew S.
- Cossette, Patrick
- Delanty, Norman
- Eichler, Evan E.
- Goldstein, David B.
- Han, Yujun
- Heinzen, Erin L.
- Johnson, Michael R.
- Marson, Anthony G.
- Mefford, Heather C.
- Nieh, Sahar Esmaeeli
- O’Brien, Terence J.
- Petrovski, Slavé
- Ruzzo, Elizabeth K.
2017
Link zum Volltext
European journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.894-899
- Allen, Andrew S
- Berkovic, Samuel F
- Bridgers, Joshua
- Cossette, Patrick
- Dlugos, Dennis
- Epstein, Michael P
- Glauser, Tracy
- Goldstein, David B
- Heinzen, Erin L
- Jiang, Yu
- Johnson, Michael R
- Kuzniecky, Ruben
- Lowenstein, Daniel H
- Marson, Anthony G
- Mefford, Heather C
- O'Brien, Terence J
- Ottman, Ruth
- Petrou, Steven
- Petrovski, Slave
- Poduri, Annapurna
- Ren, Zhong
- Scheffer, Ingrid E
- Sherr, Elliott
- Wang, Quanli
- Balling, Rudi
- Barisic, Nina
- Baulac, Stephanie
- Caglayan, Hande
- Craiu, Dana
- De Jonghe, Peter
- Depienne, Christel
- Guerrini, Renzo
- Helbig, Ingo
- Hjalgrim, Helle
- Hoffman-Zacharska, Dorota
- Jaehn, Johanna
- Klein, Karl Martin
- Koeleman, Bobby
- Komarek, Vladimir
- Krause, Roland
- Leguern, Eric
- Lehesjoki, Anna-Elina
- Lemke, Johannes R
- Lerche, Holger
- Linnankivi, Tarja
- Marini, Carla
- May, Patrick
- Moeller, Rikke S
- Muhle, Hiltrud
- Pal, Deb
- et. al
2017
Link zum Volltext
The New England journal of medicine, 2015-06, Vol.372 (25), p.2409-2422
- Dobbs, Kerry
- Domínguez Conde, Cecilia
- Zhang, Shen-Ying
- Parolini, Silvia
- Audry, Magali
- Chou, Janet
- Haapaniemi, Emma
- Keles, Sevgi
- Bilic, Ivan
- Okada, Satoshi
- Massaad, Michel J.
- Rounioja, Samuli
- Alwahadneh, Adel M.
- Serwas, Nina K.
- Capuder, Kelly
- Ciftci, Ergin
- Felgentreff, Kerstin
- Ohsumi, Toshiro K.
- Pedergnana, Vincent
- Boisson, Bertrand
- Haskoloğlu, Sule
- Ensari, Arzu
- Schuster, Michael
- Moretta, Alessandro
- Itan, Yuval
- Patrizi, Ornella
- Rozenberg, Flore
- Lebon, Pierre
- Saarela, Janna
- Knip, Mikael
- Petrovski, Slavé
- Goldstein, David B.
- Parrott, Roberta E.
- Savas, Berna
- Schambach, Axel
- Tabellini, Giovanna
- Bock, Christoph
- Chatila, Talal
- Comeau, Anne Marie
- Geha, Raif S.
- Abel, Laurent
- Buckley, Rebecca H.
- Ikincioğullari, Aydan
- Al-Herz, Waleed
- Helminen, Merja
- Doğu, Figen
- Casanova, Jean-Laurent
- Boztuğ, Kaan
- Notarangelo, Luigi D.
2015
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