학술논문
'학술논문'
에서 검색결과 34건 | 목록
1~10
Academic Journal
Journal of Inborn Errors of Metabolism and Screening. January 2019 7
Academic Journal
Grünert, Sarah C.; Gautschi, Matthias; Baker, Joshua; Boyer, Monica; Burlina, Alberto; Casswall, Thomas; Corpeleijn, Willemijn; Çıki, Kismet; Cotter, Melanie; Crushell, Ellen; Derks, Terry G.J.; Haas, Dorothea; Kilavuz, Sebile; Kingma, Sandra D.K.; Korman, Stanley H.; Kozek, Anne; de Laet, Corinne; Mundy, Helen; Nassogne, Marie Cecile; Quintero, Victor; Rossi, Alessandro; Spenger, Johannes; Spiegel, Ronen; Stephenne, Xavier; Stojkov, Darko; Tal, Galit; Veiga-da Cunha, Maria; Wortmann, Saskia B.
In Molecular Genetics and Metabolism June 2024 142(2)
Academic Journal
Bier, Caide; Dickey, Kaelin; Bibb, Brittan; Crutcher, Angela; Sponberg, Rebecca; Chang, Richard; Boyer, Monica; Davis-Keppen, Laura; Matthes, Cindy; Tharp, Michelle; Vice, Danielle; Cooney, Erin; Morand, Megan; Ray, Joseph; Lah, Melissa; McNutt, Markey; Andersson, Hans C.
In Molecular Genetics and Metabolism March 2024 141(3)
Academic Journal
Bier, Caide; Dickey, Kaelin; Andersson, Hans; McNutt, Markey; Vice, Danielle; Cooney, Erin; Morand, Megan; Ray, Joseph; Sponberg, Rebecca; Chang, Richard; Boyer, Monica; Bibb, Brittan; Crutcher, Angela; Lah, Melissa; Davis-Keppen, Laura; Matthes, Cindy
In Genetics in Medicine Open 2024 2 Supplement 1
Periodical
Coughlin, Curtis R.; Tseng, Laura A.; Bok, Levinus A.; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L.K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C.H.; van Wegberg, Annemiek; Prasad, Chitra; Prasad, Asuri N.; Lamb, Molly M.; Wijburg, Frits A.; Gospe Jr, Sidney M.; van Karnebeek, Clara
Neurology (Ovid); December 2022, Vol. 99 Issue: 23 pe2627-e2636, 10p
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Academic Journal
Tseng, Laura A.; Abdenur, Jose E.; Andrews, Ashley; Aziz, Verena G.; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Hartmann, Hans; Footitt, Emma J.; Grønborg, Sabine; Janssen, Mirian C.H.; Longo, Nicola; Lunsing, Roelineke J.; MacKenzie, Alex E.; Wijburg, Frits A.; Gospe, Sidney M.; Coughlin II, Curtis R.; van Karnebeek, Clara D.M.
Academic Journal
Simon, Mariella T; Ng, Bobby G; Friederich, Marisa W; Wang, Raymond Y; Boyer, Monica; Kircher, Martin; Collard, Renata; Buckingham, Kati J; Chang, Richard; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J; Genomics, University of Washington Center for Mendelian; Van Hove, Johan LK; Freeze, Hudson H; Abdenur, Jose E
Academic Journal
Coughlin, Curtis R.; Tseng, Laura A.; Abdenur, Jose E.; Ashmore, Catherine; Boemer, François; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Clayton, Peter T.; Das, Anibh; Dekker, Hanka; Evangeliou, Athanasios; Feillet, François; Footitt, Emma J.; Gospe, Sidney M.; Hartmann, Hans; Kara, Majdi; Kristensen, Erle; Lee, Joy; Lilje, Rina
Journal of Inherited Metabolic Disease; Jan2021, Vol. 44 Issue 1, p178-192, 15p
Academic Journal
Gruenert, Sarah C.; Derks, Terry G. J.; Adrian, Katarina; Al-Thihli, Khalid; Ballhausen, Diana; Bidiuk, Joanna; Bordugo, Andrea; Boyer, Monica; Bratkovic, Drago; Brunner-Krainz, Michaela; Burlina, Alberto; Chakrapani, Anupam; Corpeleijn, Willemijn; Cozens, Alison; Dawson, Charlotte; Dhamko, Helena; Milosevic, Maja Djordjevic; Eiroa, Hernan; Finezilber, Yael; Moura de Souza, Carolina Fischinger; Concepcion Garcia-Jimenez, Maria; Gasperini, Serena; Haas, Dorothea; Haeberle, Johannes; Halligan, Rebecca; Fung, Law Hiu; Hoerbe-Blindt, Alexandra; Horka, Laura Maria; Huemer, Martina; Ucar, Sema Kalkan; Kecman, Bozica; Kilavuz, Sebile; Krivan, Gergely; Lindner, Martin; Luesebrink, Natalia; Makrilakis, Konstantinos; Kwok, Anne Mei-Kwun; Maier, Esther M.; Maiorana, Arianna; McCandless, Shawn E.; Mitchell, John James; Mizumoto, Hiroshi; Mundy, Helen; Ochoa, Carlos; Pierce, Kathryn; Quijada Fraile, Pilar; Regier, Debra; Rossi, Alessandro; Santer, Rene; Schuman, Hester C.; Sobieraj, Piotr; Spenger, Johannes; Spiegel, Ronen; Stepien, Karolina M.; Tal, Galit; Tansek, Mojca Zerjav; Torkar, Ana Drole; Tchan, Michel; Thyagu, Santhosh; Vergano, Samantha A. Schrier; Vucko, Erika; Weinhold, Natalie; Zsidegh, Petra; Wortmann, Saskia B.
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[AR] Boyer, Monica
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