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Neuroscience, 2015-01, Vol.284, p.349-359
2015
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Nigerian journal of clinical practice, 2023-05, Vol.26 (5), p.591-598
2023
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Clinical oncology (Royal College of Radiologists (Great Britain)), 2024-06, Vol.36 (6), p.390-398
2024
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Cardiology Research and Practice, 2013-01, Vol.2013, p.976976-16
2013
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BioMed research international, 2016-01, Vol.2016, p.8957307-13
2016
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International journal of peptide research and therapeutics, 2022, Vol.28 (1), Article 29
2022
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Clinical genetics, 2013-10, Vol.84 (4), p.394-395
2013
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Fertility and sterility, 2011-08, Vol.96 (2), p.479-482
2011
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Clinical genetics, 2012-06, Vol.81 (6), p.598-601
2012
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Odontology, 2022-07, Vol.110 (3), p.584-595
2022
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Epilepsia (Copenhagen), 2015-12, Vol.56 (12), p.e203-e208
- Larsen, Jan
- Johannesen, Katrine Marie
- Ek, Jakob
- Tang, Shan
- Marini, Carla
- Blichfeldt, Susanne
- Kibæk, Maria
- Spiczak, Sarah
- Weckhuysen, Sarah
- Frangu, Mimoza
- Neubauer, Bernd Axel
- Uldall, Peter
- Striano, Pasquale
- Zara, Federico
- Kleiss, Rebecca
- Simpson, Michael
- Muhle, Hiltrud
- Nikanorova, Marina
- Jepsen, Birgit
- Tommerup, Niels
- Stephani, Ulrich
- Guerrini, Renzo
- Duno, Morten
- Hjalgrim, Helle
- Pal, Deb
- Helbig, Ingo
- Møller, Rikke Steensbjerre
- Craiu, DC
- Caglayan, HS
- Talvik, T
- Weber, YG
- Barisic, N
2015
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American journal of human genetics, 2017-04, Vol.100 (4), p.676-688
- Santiago-Sim, Teresa
- Burrage, Lindsay C.
- Ebstein, Frédéric
- Tokita, Mari J.
- Miller, Marcus
- Bi, Weimin
- Braxton, Alicia A.
- Rosenfeld, Jill A.
- Shahrour, Maher
- Lehmann, Andrea
- Cogné, Benjamin
- Küry, Sébastien
- Besnard, Thomas
- Isidor, Bertrand
- Bézieau, Stéphane
- Hazart, Isabelle
- Nagakura, Honey
- Immken, LaDonna L.
- Littlejohn, Rebecca O.
- Roeder, Elizabeth
- Afawi, Zaid
- Balling, Rudi
- Barisic, Nina
- Baulac, Stéphanie
- Craiu, Dana
- De Jonghe, Peter
- Guerrero-Lopez, Rosa
- Guerrini, Renzo
- Helbig, Ingo
- Hjalgrim, Helle
- Jähn, Johanna
- Klein, Karl Martin
- Leguern, Eric
- Lerche, Holger
- Marini, Carla
- Muhle, Hiltrud
- Rosenow, Felix
- Serratosa, José
- Sterbová, Katalin
- Suls, Arvid
- Moller, Rikke S.
- Striano, Pasquale
- Weber, Yvonne
- Zara, Federico
- Kara, Bulent
- Hardies, Katia
- Weckhuysen, Sarah
- May, Patrick
- Lemke, Johannes R.
- Elpeleg, Orly
- Abu-Libdeh, Bassam
- James, Kiely N.
- Silhavy, Jennifer L.
- Issa, Mahmoud Y.
- Zaki, Maha S.
- Gleeson, Joseph G.
- Seavitt, John R.
- Dickinson, Mary E.
- Ljungberg, M. Cecilia
- Wells, Sara
- Johnson, Sara J.
- Teboul, Lydia
- Eng, Christine M.
- Yang, Yaping
- Kloetzel, Peter-Michael
- Heaney, Jason D.
- Walkiewicz, Magdalena A.
2017
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Ecotoxicology and environmental safety, 2006, Vol.63 (1), p.131-140
2006
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Circulation (New York, N.Y.), 2019-10, Vol.140 (14), p.1156-1169
- Iung, Bernard
- Delgado, Victoria
- Rosenhek, Raphael
- Price, Susanna
- Prendergast, Bernard
- Wendler, Olaf
- De Bonis, Michele
- Tribouilloy, Christophe
- Evangelista, Arturo
- Bogachev-Prokophiev, Alexander
- Apor, Astrid
- Ince, Hüseyin
- Laroche, Cécile
- Popescu, Bogdan A
- Piérard, Luc
- Haude, Michael
- Hindricks, Gerhard
- Ruschitzka, Frank
- Windecker, Stefan
- Bax, Jeroen J
- Maggioni, Aldo
- Vahanian, Alec
- Goda, Artan
- Mascherbauer, Julia
- Samadov, Fuad
- Pasquet, Agnes
- Linhartova, Katerina
- Ihlemann, Nikolaj
- Abdelhamid, Magdy
- Saraste, Antti
- Kostovska, Elizabeta Srbinovska
- Bajraktari, Gani
- Mirrakhimov, Erkin
- Erglis, Andrejs
- Mizariene, Vaida
- Cassar, Daniela
- Tomkiewicz-Pajak, Lidia
- Ribeiras, Regina
- Beleslin, Branko
- Simkova, Iveta
- Dogan, Sait Mesut
- Rahman-Haley, Shelley
2019
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Nature genetics, 2015-04, Vol.47 (4), p.393-399
- Syrbe, Steffen
- Hedrich, Ulrike B S
- Riesch, Erik
- Djémié, Tania
- Müller, Stephan
- Møller, Rikke S
- Maher, Bridget
- Hernandez-Hernandez, Laura
- Synofzik, Matthis
- Caglayan, Hande S
- Arslan, Mutluay
- Serratosa, José M
- Nothnagel, Michael
- May, Patrick
- Krause, Roland
- Löffler, Heidrun
- Detert, Katja
- Dorn, Thomas
- Vogt, Heinrich
- Krämer, Günter
- Schöls, Ludger
- Mullis, Primus E
- Linnankivi, Tarja
- Lehesjoki, Anna-Elina
- Sterbova, Katalin
- Craiu, Dana C
- Hoffman-Zacharska, Dorota
- Korff, Christian M
- Weber, Yvonne G
- Steinlin, Maja
- Gallati, Sabina
- Bertsche, Astrid
- Bernhard, Matthias K
- Merkenschlager, Andreas
- Kiess, Wieland
- Gonzalez, Michael
- Züchner, Stephan
- Palotie, Aarno
- Suls, Arvid
- De Jonghe, Peter
- Helbig, Ingo
- Biskup, Saskia
- Wolff, Markus
- Maljevic, Snezana
- Schüle, Rebecca
- Sisodiya, Sanjay M
- Weckhuysen, Sarah
- Lerche, Holger
- Lemke, Johannes R
2015
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American journal of human genetics, 2015-05, Vol.96 (5), p.808-815
- Carvill, Gemma L.
- McMahon, Jacinta M.
- Schneider, Amy
- Zemel, Matthew
- Myers, Candace T.
- Saykally, Julia
- Nguyen, John
- Robbiano, Angela
- Zara, Federico
- Specchio, Nicola
- Mecarelli, Oriano
- Smith, Robert L.
- Leventer, Richard J.
- Møller, Rikke S.
- Nikanorova, Marina
- Dimova, Petia
- Jordanova, Albena
- Petrou, Steven
- Helbig, Ingo
- Striano, Pasquale
- Weckhuysen, Sarah
- Berkovic, Samuel F.
- Scheffer, Ingrid E.
- Mefford, Heather C.
2015
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Genetic counseling, 2013-01, Vol.24 (3), p.283
2013
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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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Genetic counseling, 2011-01, Vol.22 (2), p.155
2011
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American journal of human genetics, 2018-12, Vol.103 (6), p.1022-1029
- Carvill, Gemma L.
- Engel, Krysta L.
- Ramamurthy, Aishwarya
- Cochran, J. Nicholas
- Roovers, Jolien
- Stamberger, Hannah
- Lim, Nicholas
- Schneider, Amy L.
- Hollingsworth, Georgie
- Holder, Dylan H.
- Regan, Brigid M.
- Lawlor, James
- Lagae, Lieven
- Ceulemans, Berten
- Bebin, E. Martina
- Nguyen, John
- Striano, Pasquale
- Zara, Federico
- Helbig, Ingo
- Møller, Rikke S.
- von Spiczak, Sarah
- Muhle, Hiltrud
- Caglayan, Hande
- Sterbova, Katalin
- Craiu, Dana
- Hoffman, Dorota
- Lehesjoki, Anna-Elina
- Selmer, Kaja
- Depienne, Christel
- Lemke, Johannes
- Marini, Carla
- Guerrini, Renzo
- Neubauer, Bernd
- Talvik, Tiina
- Leguern, Eric
- de Jonghe, Peter
- Weckhuysen, Sarah
- Barsh, Gregory S.
- Meisler, Miriam
- Berkovic, Samuel F.
- De Jonghe, Peter
- Scheffer, Ingrid E.
- Myers, Richard M.
- Cooper, Gregory M.
- Mefford, Heather C.
2018
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Brain (London, England : 1878), 2015-11, Vol.138 (Pt 11), p.3238-3250
- Hardies, Katia
- de Kovel, Carolien G F
- Weckhuysen, Sarah
- Asselbergh, Bob
- Geuens, Thomas
- Deconinck, Tine
- Azmi, Abdelkrim
- May, Patrick
- Brilstra, Eva
- Becker, Felicitas
- Barisic, Nina
- Craiu, Dana
- Braun, Kees P J
- Lal, Dennis
- Thiele, Holger
- Schubert, Julian
- Weber, Yvonne
- van 't Slot, Ruben
- Nürnberg, Peter
- Balling, Rudi
- Timmerman, Vincent
- Lerche, Holger
- Maudsley, Stuart
- Helbig, Ingo
- Suls, Arvid
- Koeleman, Bobby P C
- De Jonghe, Peter
2015
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Neurology, 2015-02, Vol.84 (5), p.480
- Larsen, Jan
- Carvill, Gemma L
- Gardella, Elena
- Kluger, Gerhard
- Schmiedel, Gudrun
- Barisic, Nina
- Depienne, Christel
- Brilstra, Eva
- Mang, Yuan
- Nielsen, Jens Erik Klint
- Kirkpatrick, Martin
- Goudie, David
- Goldman, Rebecca
- Jähn, Johanna A
- Jepsen, Birgit
- Gill, Deepak
- Döcker, Miriam
- Biskup, Saskia
- McMahon, Jacinta M
- Koeleman, Bobby
- Harris, Mandy
- Braun, Kees
- de Kovel, Carolien G F
- Marini, Carla
- Specchio, Nicola
- Djémié, Tania
- Weckhuysen, Sarah
- Tommerup, Niels
- Troncoso, Monica
- Troncoso, Ledia
- Bevot, Andrea
- Wolff, Markus
- Hjalgrim, Helle
- Guerrini, Renzo
- Scheffer, Ingrid E
- Mefford, Heather C
- Møller, Rikke S
2015
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Epilepsia (Copenhagen), 2020-05, Vol.61 (5), p.995-1007
- Tang, Shan
- Addis, Laura
- Smith, Anna
- Topp, Simon D.
- Pendziwiat, Manuela
- Mei, Davide
- Parker, Alasdair
- Agrawal, Shakti
- Hughes, Elaine
- Lascelles, Karine
- Williams, Ruth E.
- Fallon, Penny
- Robinson, Robert
- Cross, Helen J.
- Hedderly, Tammy
- Eltze, Christin
- Kerr, Tim
- Desurkar, Archana
- Hussain, Nahin
- Kinali, Maria
- Bagnasco, Irene
- Vassallo, Grace
- Whitehouse, William
- Goyal, Sushma
- Absoud, Michael
- Møller, Rikke S.
- Helbig, Ingo
- Weber, Yvonne G.
- Marini, Carla
- Guerrini, Renzo
- Simpson, Michael A.
- Pal, Deb K.
- Craiu, Dana
- Davila, Carol
- Obregia, Alexandru
- De Jonghe, Peter
- Lehesjoki, Anna‐Elina
- Muhle, Hiltrud
- Neubauer, Bernd
- Selmer, Kaja
- Stephani, Ulrich
- Sterbova, Katalin
- Striano, Pasquale
- Talvik, Tiina
- von Spiczak, Sarah
- Weckhuysen, Sarah
- Caglayan, Hande
- Hoffman‐Zacharska, Dorota
2020
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Brain (London, England : 1878), 2015-05, Vol.138 (Pt 5), p.1198-1208
- Galizia, Elizabeth C
- Myers, Candace T
- Leu, Costin
- de Kovel, Carolien G F
- Afrikanova, Tatiana
- Cordero-Maldonado, Maria Lorena
- Martins, Teresa G
- Jacmin, Maxime
- Drury, Suzanne
- Krishna Chinthapalli, V
- Muhle, Hiltrud
- Pendziwiat, Manuela
- Sander, Thomas
- Ruppert, Ann-Kathrin
- Møller, Rikke S
- Thiele, Holger
- Krause, Roland
- Schubert, Julian
- Lehesjoki, Anna-Elina
- Nürnberg, Peter
- Lerche, Holger
- Palotie, Aarno
- Coppola, Antonietta
- Striano, Salvatore
- Gaudio, Luigi Del
- Boustred, Christopher
- Schneider, Amy L
- Lench, Nicholas
- Jocic-Jakubi, Bosanka
- Covanis, Athanasios
- Capovilla, Giuseppe
- Veggiotti, Pierangelo
- Piccioli, Marta
- Parisi, Pasquale
- Cantonetti, Laura
- Sadleir, Lynette G
- Mullen, Saul A
- Berkovic, Samuel F
- Stephani, Ulrich
- Helbig, Ingo
- Crawford, Alexander D
- Esguerra, Camila V
- Kasteleijn-Nolst Trenité, Dorothee G A
- Koeleman, Bobby P C
- Mefford, Heather C
- Scheffer, Ingrid E
- Sisodiya, Sanjay M
2015
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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
- Chatron, Nicolas
- Becker, Felicitas
- Morsy, Heba
- Schmidts, Miriam
- Hardies, Katia
- Tuysuz, Beyhan
- Roselli, Sandra
- Najafi, Maryam
- Alkaya, Dilek Uludag
- Ashrafzadeh, Farah
- Nabil, Amira
- Omar, Tarek
- Maroofian, Reza
- Karimiani, Ehsan Ghayoor
- Hussien, Haytham
- Kok, Fernando
- Ramos, Luiza
- Gunes, Nilay
- Bilguvar, Kaya
- Labalme, Audrey
- Alix, Eudeline
- Sanlaville, Damien
- de Bellescize, Julitta
- Poulat, Anne-Lise
- Moslemi, Ali-Reza
- Lerche, Holger
- May, Patrick
- Lesca, Gaetan
- Weckhuysen, Sarah
- Tajsharghi, Homa
2020
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