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Bruria Ben Zeev

Tel Aviv University

28H-index
76Paper Count
2.3KCitation Count
Published Papers 41
Publication Date
Adjunctive acetazolamide for drug-resistant seizures in SLC6A1-related neurodevelopmental disorder: An exploratory case series
err2025-10-23
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errGia Melikishvili; Olivier Dulac; Otar Koniashvili; Giorgi Mamardashvili; Tamar Gachechiladze; Nazhi Tabatadze; Mariam Melikishvili; Rimma Gamirova; Tatyana Tomenko; Igor Bakhtin; Amber Freed; Elena Bossi; Bruria Ben-Zeev; Gerhard Kluger; Antonio Falace; Antonella Riva; Kai Kaila; Pasquale Striano
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Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
err2025-10-22
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errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
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Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts
err2025-07-31
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errOAAI
errLeo Arkush; Geeske M. van Woerden; Limor Ziv; Dina Marek-Yagel; Reginald Fonseca; Esmee Brevé; Ortal Barel; Nechama Shalva; Alvit Veber; Yair Anikster; Dominique Ben-Ami Raichman; Banan Musallam; Shai Marcu; Andreea Nissenkorn; Hanna Mandel; Steven A. Kushner; Bruria Ben Zeev; Gali Heimer
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Bone health and bisphosphonate treatment in females with Rett syndrome in a national center
err2025-03-21
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errLevy-Shraga, Yael; Goldmann, Simon; Gruber, Noah; Tripto-Shkolnik, Liana; Modan-Moses, Dalit; Givon, Uri; Ben-Zeev, Bruria
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Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation
err2025-03-13
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errPoleg, Tomer; Hadar, Noam; Heimer, Gali; Dolgin, Vadim; Aminov, Ilana; Safran, Amit; Agam, Nadav; Jean, Matan M.; Freund, Ofek; Kaur, Simran; Christodoulou, John; Ben-Zeev, Bruria
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Development of an International Standard Set of Outcomes and Measurement Methods for Routine Practice for Infants, Children, and Adolescents with Epilepsy: The International Consortium for Health Outcomes Measurement Consensus Recommendations
err2024-05-17
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errMitchell, James W.; Sossi, Frieda; Miller, Isabel; Jaber, Paula Blancarte; Das-Gupta, Zofia; Fialho, Luz Sousa; Amos, Action; Austin, Joan K.; Badzik, Scott; Baker, Gus; Ben Zeev, Bruria; Bolton, Jeffrey; Chaplin, John E.; Cross, J. Helen; Chan, Derrick; Gericke, Christian A.; Husain, Aatif M.; Lally, Lorraine; Mbugua, Sharon; Megan, Cassidy; Mesa, Tomas; Nunez, Lilia; von Oertzen, Tim J.; Perucca, Emilio; Pullen, Angie; Ronen, Gabriel M.; Sajatovic, Martha; Singh, Mamta B.; Wilmshurst, Jo M.; Wollscheid, Leonie; Berg, Anne T.
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Development of an International Standard Set of Outcomes and Measurement Methods for Routine Practice for Adults with Epilepsy: The International Consortium for Health Outcomes Measurement Consensus Recommendations
err2024-05-13
err3
errOAAI
errMitchell, James W.; Sossi, Frieda; Miller, Isabel; Jaber, Paula Blancarte; Das-Gupta, Zofia; Fialho, Luz Sousa; Amos, Action; Austin, Joan K.; Badzik, Scott; Baker, Gus; Ben Zeev, Bruria; Bolton, Jeffrey; Chaplin, John E.; Cross, J. Helen; Chan, Derrick; Gericke, Christian A.; Husain, Aatif M.; Lally, Lorraine; Mbugua, Sharon; Megan, Cassidy; Mesa, Tomas; Nunez, Lilia; von Oertzen, Tim J.; Perucca, Emilio; Pullen, Angie; Ronen, Gabriel M.; Sajatovic, Martha; Singh, Mamta B.; Wilmshurst, Jo M.; Wollscheid, Leonie; Berg, Anne T.
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Real-Life Experience With Purified Cannabidiol Treatment for Refractory Epilepsy: A Multicenter Retrospective Study
err2024-01-01
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errTzadok, Michal; Gur-Pollack, Rotem; Florh, Hadar; Michaeli, Yael; Gilboa, Tal; Lezinger, Mirit; Heyman, Eli; Chernuha, Veronika; Gudis, Irina; Nissenkorn, Andreea; Lerman-Sagie, Tally; Ben Zeev, Bruria; Uliel-Sibony, Shimrit
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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
errBRAIN
IF11.7
err2023-12-01
err2
errOAAI
errRinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G.; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H.; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M.; Pedersen, Miriam G.; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andree; Emrick, Lisa T.; Sully, Krystal; Murali, Chaya N.; Burrage, Lindsay C.; Gonzalez, Julie Ana Plaud; Parnes, Mered; Friedman, Jennifer; Isidor, Bertrand; Lefranc, Jeremie; Redon, Sylvia; Heron, Delphine; Mignot, Cyril; Keren, Boris; Fradin, Melanie; Dubourg, Christele; Mercier, Sandra; Besnard, Thomas; Cogne, Benjamin; Deb, Wallid; Rivier, Clotilde; Milani, Donatella; Bedeschi, Maria Francesca; Di Napoli, Claudia; Grilli, Federico; Marchisio, Paola; Koudijs, Suzanna; Veenma, Danielle; Argilli, Emanuela; Lynch, Sally Ann; Au, Ping Yee Billie; Valenzuela, Fernando Eduardo Ayala; Brown, Carolyn; Masser-Frye, Diane; Jones, Marilyn; Romero, Leslie Patron; Li, Wenhui Laura; Thorpe, Erin; Hecher, Laura; Johannsen, Jessika; Denecke, Jonas; McNiven, Vanda; Szuto, Anna; Wakeling, Emma; Cruz, Vincent; Sency, Valerie; Wang, Heng; Piard, Juliette; Kortuem, Fanny; Herget, Theresia; Bierhals, Tatjana; Condell, Angelo; Ben-Zeev, Bruria; Kaur, Simranpreet; Christodoulou, John; Piton, Amelie; Zweier, Christiane; Kraus, Cornelia; Micalizzi, Alessia; Trivisano, Marina; Specchio, Nicola; Lesca, Gaetan; Moller, Rikke S.; Tumer, Zeynep; Musgaard, Maria; Gerard, Benedicte; Lemke, Johannes R.; Shi, Yun Stone; Kristensen, Anders S.
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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (vol 139, 107624, 2023)
err2023-08-01
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errHimmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Gumus, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Hubschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thony, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad
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Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
err2023-07-01
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errOAAI
errHimmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Guemues, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Huebschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thoeny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad
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DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
err2023-05-30
err4
PREAI
errVos, Niels; Reilly, Jack; Elting, Mariet W.; Campeau, Philippe M.; Coman, David; Stark, Zornitza; Tan, Tiong Yang; Amor, David J.; Kaur, Simran; StJohn, Miya; Morgan, Angela T.; Kamien, Benjamin A.; Patel, Chirag; Tedder, Matthew L.; Merla, Giuseppe; Prontera, Paolo; Castori, Marco; Muru, Kai; Collins, Felicity; Christodoulou, John; Smith, Janine; Zeev, Bruria Ben; Murgia, Alessandra; Leonardi, Emanuela; Esber, Natacha; Martinez-Monseny, Antonio; Casas-Alba, Didac; Wallis, Matthew; Mannens, Marcel; Levy, Michael A.; Relator, Raissa; Alders, Marielle; Sadikovic, Bekim
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (vol 110, pg 120, 2023)
err2023-03-01
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errPaul, Maimuna S.; Duncan, Anna R.; Genetti, Casie A.; Pan, Hongling; Jackson, Adam; Grant, Patricia E.; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P.; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Haack, B. Ulrike Blumlein Tobias B.; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V.; Palculict, Timothy Blake; Calame, Daniel G.; Schwan, Katharina; Aycinena, Alicia R. P.; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B.
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PREVALENCE OF DDC VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY
err2023-03-01
err0
PREAI
errHimmelreich, Nastassja; Bertoldi, Mariarita; Bisello, Giovanni; Anikster, Yair; Ben Zeev, Bruria; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Kurian, Manju; Spaull, Robert; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Thony, Beat; Huebschmann, Oya Kuseyri; Jeltsch, Kathrin; Opladen, Thomas; Blau, Nenad
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Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
err2023-01-01
err12
errOAAI
errPaul, Maimuna S.; Duncan, Anna R.; Genetti, Casie A.; Pan, Hongling; Jackson, Adam; Grant, Patricia E.; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P.; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Bluemlein, Ulrike; Haack, Tobias B.; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni, V; Palculict, Timothy Blake; Calame, Daniel G.; Schwan, Katharina; Aycinena, Alicia R. P.; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B.
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The Long-Term Effectiveness and Safety of Cannabidiol-Enriched Oil in Children With Drug-Resistant Epilepsy
err2022-11-01
err4
PREAI
errTzadok, Michal; Hamed, Nasrin; Heimer, Gali; Zohar-Dayan, Efrat; Rabinowicz, Shira; Ben Zeev, Bruria
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Epilepsy Course and Developmental Trajectories in STXBP1-DEE
err2022-06-01
err25
errOAAI
errBalagura, Ganna; Xian, Julie; Riva, Antonella; Marchese, Francesca; Ben Zeev, Bruria; Rios, Loreto; Sirsi, Deepa; Accorsi, Patrizia; Amadori, Elisabetta; Astrea, Guja; Baldassari, Simona; Beccaria, Francesca; Boni, Antonella; Budetta, Mauro; Cantalupo, Gaetano; Capovilla, Giuseppe; Cesaroni, Elisabetta; Chiesa, Valentina; Coppola, Antonietta; Dilena, Robertino; Faggioli, Raffaella; Ferrari, Annarita; Fiorini, Elena; Madia, Francesca; Gennaro, Elena; Giacomini, Thea; Giordano, Lucio; Iacomino, Michele; Lattanzi, Simona; Marini, Carla; Mancardi, Maria Margherita; Mastrangelo, Massimo; Messana, Tullio; Minetti, Carlo; Nobili, Lino; Papa, Amanda; Parmeggiani, Antonia; Pisano, Tiziana; Russo, Angelo; Salpietro, Vincenzo; Savasta, Salvatore; Scala, Marcello; Accogli, Andrea; Scelsa, Barbara; Scudieri, Paolo; Spalice, Alberto; Specchio, Nicola; Trivisano, Marina; Tzadok, Michal; Valeriani, Massimiliano; Vari, Maria Stella; Verrotti, Alberto; Vigevano, Federico; Vignoli, Aglaia; Toonen, Ruud; Zara, Federico; Helbig, Ingo; Striano, Pasquale
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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
err2022-04-01
err20
errOAAI
errStephenson, Sarah E. M.; Costain, Gregory; Blok, Laura E. R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; Au, P. Y. Billie; Griffith, Christopher; Racobaldo, Melissa; Raas-Rothschild, Annick; Ben Zeev, Bruria; Barel, Ortal; Moutton, Sebastien; Morice-Picard, Fanny; Carmignac, Virginie; Cornaton, Jenny; Marle, Nathalie; Devinsky, Orrin; Stimach, Chandler; Wechsler, Stephanie Burns; Hainline, Bryan E.; Sapp, Katie; Willems, Marjolaine; Bruel, Angeline; Dias, Kerith-Rae; Evans, Carey-Anne; Roscioli, Tony; Sachdev, Rani; Temple, Suzanna E. L.; Zhu, Ying; Baker, Joshua J.; Scheffer, Ingrid E.; Gardiner, Fiona J.; Schneider, Amy L.; Muir, Alison M.; Mefford, Heather C.; Crunk, Amy; Heise, Elizabeth M.; Millan, Francisca; Monaghan, Kristin G.; Person, Richard; Rhodes, Lindsay; Richards, Sarah; Wentzensen, Ingrid M.; Cogne, Benjamin; Isidor, Bertrand; Nizon, Mathilde; Vincent, Marie; Besnard, Thomas; Piton, Amelie; Marcelis, Carlo; Kato, Kohji; Koyama, Norihisa; Ogi, Tomoo; Goh, Elaine Suk-Ying; Richmond, Christopher; Amor, David J.; Boyce, Jessica O.; Morgan, Angela T.; Hildebrand, Michael S.; Kaspi, Antony; Bahlo, Melanie; Fridriksdottir, Run; Katrinardottir, Hildigunnur; Sulem, Patrick; Stefansson, Kari; Bjornsson, Hans Tomas; Mandelstam, Simone; Morleo, Manuela; Mariani, Milena; Scala, Marcello; Accogli, Andrea; Torella, Annalaura; Capra, Valeria; Wallis, Mathew; Jansen, Sandra; Waisfisz, Quinten; de Haan, Hugoline; Sadedin, Simon; Lim, Sze Chern; White, Susan M.; Ascher, David B.; Schenck, Annette; Lockhart, Paul J.; Christodoulou, John; Tan, Tiong Yang
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Using nirmatrelvir/ritonavir in patients with epilepsy: An update from the Israeli chapter of the International League Against Epilepsy
err2022-03-09
err9
errOAAI
errNoyman, Iris; Ekstein, Dana; Fahoum, Firas; Herskovitz, Moshe; Linder, Ilan; Ben Zeev, Bruria; Eyal, Sara
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