Kết quả tìm kiếm - R Portier

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  1. 1
    Long-term neuropsychological outcome following pediatric anti-NMDAR encephalitis

    Long-term neuropsychological outcome following pediatric anti-NMDAR encephalitis Bằng Marienke A.A.M. de Bruijn, Femke K. Aarsen, Marielle P. van Oosterhout, Marieke M van der Knoop, Coriene E. Catsman‐Berrevoets, Marco W.J. Schreurs, Anna E.M. Bastiaansen, Peter A.E. Sillevis Smitt, Rinze F. Neuteboom, Maarten J. Titulaer, Paul B. Augustijn, Dewi P. Bakker, Maartje Boon, Elisabeth A. Cats, Merijn Eikelenboom, Marc Engelen, C.P.W. Geleijns, Charlotte A. Haaxma, Joost Nicolai, J.M.F. Niermeijer, Erik H. Niks, E Peeters, R Portier, André B. Rietman, H.M. Schippers, Aad Verrips, Marie‐Claire Y. de Wit

    Được phát hành 2018
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    Artigo
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  2. 2
    Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study

    Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study Bằng Casper L. de Mol, Yu Yi M. Wong, E Daniëlle van Pelt, I. A. Ketelslegers, Dewi P. Bakker, M. E. Boon, Kees P. J. Braun, K. G. J. van Dijk, Merijn Eikelenboom, Marc Engelen, Karin Geleijns, Charlotte A. Haaxma, J.M.F. Niermeijer, Erik H. Niks, E Peeters, Cacha Peeters‐Scholte, Bwee Tien Poll‐The, R Portier, J.F. de Rijk-van Andel, Johnny P.A. Samijn, H.M. Schippers, I. Snoeck, Hans Stroink, R. Jeroen Vermeulen, Aad Verrips, Frank Visscher, Johan S.H. Vles, Michèl A.A.P. Willemsen, Coriene E. Catsman‐Berrevoets, Rogier Q. Hintzen, R. F. Neuteboom

    Được phát hành 2018
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    Artigo
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  3. 3
    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects Bằng Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, María Rodríguez‐López, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep S. Walia, Christopher S. Francklyn, Alkyoni Athanasiou‐Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Barañano, Faisal Zafar, Nuzhat Rana, Muhammad Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amélie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayça Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, R Portier, Marwan Shinawi, Amelia Kirby, Katherine Christensen, Lu Wang, Rasim Özgür Rosti, Sohail Aziz Paracha, Muhammad Tahir Sarwar, Dagan Jenkins, Jawad Ahmed, Federico Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, María J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl‐Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, S. Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horváth, Joseph G. Gleeson, H. D. Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden

    Được phát hành 2020
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    Artigo
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  4. 4
    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

    Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia Bằng Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane Müller, Rolf Stucka, Christian Beetz, Stéphanie Efthymiou, Filippo M. Santorelli, Ahmed Alfares, Changlian Zhu, Anna Uhrová Mészárosová, Elham Alehabib, Somayeh Bakhtiari, Andreas Janecke, María Gabriela Otero, Jin Yun Helen Chen, James T Peterson, Tim M. Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P.C. van de Warrenburg, R Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilgüvar, Sherifa A. Hamed, Mohammed Abdelhameed, Nourelhoda A. Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair T. Pagnamenta, Nicholas Wood, Frédéric Tran Mau‐Them, Tobias B. Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laëtitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Küpper, David Dredge, Cara Skraban, Amy Goldstein, Mary Willis, Katheryn Grand, John M. Graham, Richard A. Lewis, Francisca Millan, Özgür Duman, Nihal Olgaç Dündar, Gökhan Uyanık, Lüdger Schöls, Peter Nürnberg, Gudrun Nürnberg, Andrea Català-Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Bouçanova, Jean‐Jacques Médard, Roman Chrast, Michaela Auer‐Grumbach, Fowzan S. Alkuraya, Hanan E. Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Gläser, Wolfgang Hüttel, Michael C. Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Züchner, Jonathan Baets, Matthis Synofzik, Rebecca Schüle, Rita Horváth

    Được phát hành 2021
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    Artigo
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