학술논문
'학술논문'
에서 검색결과 191건 | 목록
30~40
Periodical
Sleyp, Yoeri; Valenzuela, Irene; Accogli, Andrea; Ballon, Katleen; Ben-Zeev, Bruria; Berkovic, Samuel F.; Broly, Martin; Callaerts, Patrick; Caylor, Raymond C.; Charles, Perrine; Chatron, Nicolas; Cohen, Lior; Coppola, Antonietta; Cordeiro, Dawn; Cuccurullo, Claudia; Cuscó, Ivon; diMonda, Janette; Duran-Romaña, Ramon; Ekhilevitch, Nina; Fernández-Alvarez, Paula; Gordon, Christopher T.; Isidor, Bertrand; Keren, Boris; Lesca, Gaetan; Maljaars, Jarymke; Mercimek-Andrews, Saadet; Morrow, Michelle M.; Muir, Alison M.; Rousseau, Frederic; Salpietro, Vincenzo; Scheffer, Ingrid E.; Schnur, Rhonda E.; Schymkowitz, Joost; Souche, Erika; Steyaert, Jean; Stolerman, Elliot S.; Vengoechea, Jaime; Ville, Dorothée; Washington, Camerun; Weiss, Karin; Zaid, Rinat; Sadleir, Lynette G.; Mefford, Heather C.; Peeters, Hilde
Genetics in Medicine; December 2022, Vol. 24 Issue: 12 p2464-2474, 11p
Academic Journal
Reijnders, Margot RF; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline AC; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert BA; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia AL; Wieczorek, Dagmar; Study, The Deciphering Developmental Disorders; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs WE; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander PA; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid MA; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen RF; Mathijssen, Irene MJ; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew OM
American Journal of Human Genetics. 102(6)
Academic Journal
Zabinyakov, Nikita; Bullivant, Garrett; Cao, Feng; Fernandez Ojeda, Matilde; Jia, Zheng Ping; Wen, Xiao-Yan; Dowling, James J.; Salomons, Gajja S.; Mercimek-Andrews, Saadet
Academic Journal
Bourque, Danielle K.; Mellin‐Sanchez, Lizbeth E.; Bullivant, Garrett; Cruz, Vivian; Feigenbaum, Anette; Hewson, Stacy; Raiman, Julian; Schulze, Andreas; Siriwardena, Komudi; Mercimek‐Andrews, Saadet
JIMD Reports. January 2021, Vol. 57 Issue 1, p102, 13 p.
Academic Journal
Mercimek-Andrews, Saadet; Ambrose, Anastasia; Sharma, Saloni; Zhang, Dan; Bahl, Shalini; Hung, Clara; Jain, Shailly; Chan, Alicia
Academic Journal
Ligezka, Anna N.; Radenkovic, Silvia; Saraswat, Mayank; Garapati, Kishore; Ranatunga, Wasantha; Krzysciak, Wirginia; Yanaihara, Hitoshi; Preston, Graeme; Brucker, William; McGovern, Renee M.; Reid, Joel M.; Cassiman, David; Muthusamy, Karthik; Johnsen, Christin; Mercimek‐Andrews, Saadet; Larson, Austin; Lam, Christina; Edmondson, Andrew C.; Ghesquière, Bart; Witters, Peter
Academic Journal
Hübschmann, Oya Kuseyri; Horvath, Gabriella; Cortès-Saladelafont, Elisenda; Yıldız, Yılmaz; Mastrangelo, Mario; Pons, Roser; Friedman, Jennifer; Mercimek-Andrews, Saadet; Suet-Na Wong; Pearson, Toni S.; Zafeiriou, Dimitrios I.; Kulhánek, Jan; Kurian, Manju A.; López-Laso, Eduardo; Oppebøen, Mari; Kılavuz, Sebile; Wassenberg, Tessa; Goez, Helly; Scholl-Bürgi, Sabine; Porta, Francesco
Nature Communications; 9/20/2021, Vol. 12 Issue 1, p1-15, 15p, 1 Diagram, 4 Charts, 5 Graphs
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.
Academic Journal
Panneerselvam, Sugi; Wang, Julia; Zhu, Wenmiao; Dai, Hongzheng; Pappas, John G.; Rabin, Rachel; Low, Karen J.; Rosenfeld, Jill A.; Emrick, Lisa; Xiao, Rui; Xia, Fan; Yang, Yaping; Eng, Christine M.; Anderson, Anne; Chau, Vann; Soler‐Alfonso, Claudia; Streff, Haley; Lalani, Seema R.; Mercimek‐Andrews, Saadet; Bi, Weimin
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
Academic Journal
Kuseyri Hübschmann, Oya; Mohr, Alexander; Friedman, Jennifer; Manti, Filippo; Horvath, Gabriella; Cortès‐Saladelafont, Elisenda; Mercimek‐Andrews, Saadet; Yildiz, Yilmaz; Pons, Roser; Kulhánek, Jan; Oppebøen, Mari; Koht, Jeanette Aimee; Podzamczer‐Valls, Inés; Domingo‐Jimenez, Rosario; Ibáñez, Salvador; Alcoverro‐Fortuny, Oscar; Gómez‐Alemany, Teresa; Castro, Pedro; Alfonsi, Chiara; Zafeiriou, Dimitrios I.
Journal of Inherited Metabolic Disease; Jul2021, Vol. 44 Issue 4, p1070-1082, 13p
Academic Journal
Klopstock, Thomas; Videnovic, Aleksandar; Bischoff, Almut Turid; Bonnet, Cecilia; Cif, Laura; Comella, Cynthia; Correa‐Vela, Marta; Escolar, Maria L.; Fraser, Jamie L.; Gonzalez, Victoria; Hermanowicz, Neal; Jech, Robert; Jinnah, Hyder A.; Kmiec, Tomasz; Lang, Anthony; Martí, Maria J.; Mercimek‐Andrews, Saadet; Monduy, Migvis; Nimmo, Graeme A.M.; Perez‐Dueñas, Belen
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[AR] Mercimek‐Andrews, Saadet
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