학술논문
'학술논문'
에서 검색결과 51건 | 목록
1~10
Academic Journal
Macnee, Marie; Pérez-Palma, Eduardo; López-Rivera, Javier A.; Ivaniuk, Alina; May, Patrick; Møller, Rikke S.; Lal, Dennis
In European Journal of Paediatric Neurology January 2023 42:82-87
Academic Journal
Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan; Hajianpour, M; Pal, Deb; Engelen, Marc; Hagebeuk, Eveline; Shinawi, Marwan; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor; Striano, Pasquale; Freed, Amanda; Futtrup, Line; Balslev, Thomas; Abulí, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes; Tiller, Jacob; Freed, Amber; Kang, Jing-Qiong; Wuster, Arthur; Møller, Rikke; Lal, Dennis
Brain. 146(12)
Academic Journal
Montanucci, Ludovica; Lewis-Smith, David; Collins, Ryan; Niestroj, Lisa-Marie; Parthasarathy, Shridhar; Xian, Julie; Ganesan, Shiva; Macnee, Marie; Brünger, Tobias; Thomas, Rhys; Talkowski, Michael; Helbig, Ingo; Leu, Costin; Lal, Dennis
Nature Communications. 14(1)
Academic Journal
Macnee, Marie; Pérez-Palma, Eduardo; Brünger, Tobias; Klöckner, Chiara; Platzer, Konrad; Stefanski, Arthur; Montanucci, Ludovica; Bayat, Allan; Radtke, Maximilian; Collins, Ryan L; Talkowski, Michael; Blankenberg, Daniel; Møller, Rikke S; Lemke, Johannes R; Nothnagel, Michael; May, Patrick; Lal, Dennis
Academic Journal
López-Rivera, Javier A; Leu, Costin; Macnee, Marie; Khoury, Jean; Hoffmann, Lucas; Coras, Roland; Kobow, Katja; Bhattarai, Nisha; Pérez-Palma, Eduardo; Hamer, Hajo; Brandner, Sebastian; Rössler, Karl; Bien, Christian G; Kalbhenn, Thilo; Pieper, Tom; Hartlieb, Till; Butler, Elizabeth; Genovese, Giulio; Becker, Kerstin; Altmüller, Janine
Academic Journal
Iqbal, Sumaiya; Brünger, Tobias; Pérez-Palma, Eduardo; Macnee, Marie; Brunklaus, Andreas; Daly, Mark J; Campbell, Arthur J; Hoksza, David; May, Patrick; Lal, Dennis
Electronic Resource
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]; Fonds National de la Recherche - FnR [sponsor]; DFG [sponsor]; BMBF [sponsor]; Iqbal, Sumaiya; Brünger, Tobias; Pérez-Palma, Eduardo; Macnee, Marie; Brunklaus, Andreas; Daly, Mark J.; Campbell, Arthur J.; Hoksza, David; May, Patrick; Lal, Dennis
Electronic Resource
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]; Fonds National de la Recherche - FnR [sponsor]; DFG [sponsor]; BMBF [sponsor]; Macnee, Marie; Pérez-Palma, Eduardo; Brünger, Tobias; Klöckner, Chiara; Platzer, Konrad; Stefanski, Arthur; Montanucci, Ludovica; Bayat, Allan; Radtke, Maximilian; Collins, Ryan L.; Talkowski, Michael; Blankenberg, Daniel; Møller, Rikke S.; Lemke, Johannes R.; Nothnagel, Michael; May, Patrick; Lal, Dennis
Electronic Resource
Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center]; Fonds National de la Recherche - FnR [sponsor]; Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E. O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abulí, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nabavi Nouri, Maryam; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing-Qiong; Wuster, Arthur; Møller, Rikke S.; Lal, Dennis
Electronic Resource
Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine M.; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T.; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M.; Hajianpour, M. J.; Pal, Deb K.; Engelen, Marc; Hagebeuk, Eveline E.O.; Shinawi, Marwan; Heidlebaugh, Alexis R.; Oetjens, Kathryn; Hoffman, Trevor L.; Striano, Pasquale; Freed, Amanda S.; Futtrup, Line; Balslev, Thomas; Abulí, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B.; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R.; Tiller, Jacob; Freed, Amber N.; Kang, Jing Qiong; Wuster, Arthur; Møller, Rikke S.; Lal, Dennis
Stefanski , A , Pérez-Palma , E , Brünger , T , Montanucci , L , Gati , C , Klöckner , C , Johannesen , K M , Goodspeed , K , Macnee , M , Deng , A T , Aledo-Serrano , Á , Borovikov , A , Kava , M , Bouman , A M , Hajianpour , M J , Pal , D K , Engelen , M , Hagebeuk , E E O , Shinawi , M , Heidlebaugh , A R , Oetjens , K , Hoffman , T L , Striano , P , Freed , A S , Futtrup , L , Balslev , T , Abulí , A , Danvoye , L , Lederer , D , Balci , T , Nouri , M N , Butler , E , Drewes , S , van Engelen , K , Howell , K B , Khoury , J , May , P , Trinidad , M , Froelich , S , Lemke , J R , Tiller , J , Freed , A N , Kang , J Q , Wuster , A , Møller , R S & Lal , D 2023 , ' SLC6A1 variant pathogenicity, molecular function and phenotype : a genetic and clinical analysis ' , Brain : a journal of neurology , vol. 146 , no. 12 , pp. 5198-5208 .
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[AR] Macnee, Marie
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