학술논문
'학술논문'
에서 검색결과 705건 | 목록
1~10
Academic Journal
Journal of Inborn Errors of Metabolism and Screening. January 2018 6
Academic Journal
Brunet, Theresa; Zott, Benedikt; Lieftüchter, Victoria; Lenz, Dominic; Schmidt, Axel; Peters, Philipp; Kopajtich, Robert; Zaddach, Malin; Zimmermann, Hanna; Hüning, Irina; Ballhausen, Diana; Staufner, Christian; Bianzano, Alyssa; Hughes, Joanne; Taylor, Robert W.; McFarland, Robert; Devlin, Anita; Mihaljević, Mihaela; Barišić, Nina; Rohlfs, Meino; Wilfling, Sibylle; Sondheimer, Neal; Hewson, Stacy; Marinakis, Nikolaos M.; Kosma, Konstantina; Traeger-Synodinos, Joanne; Elbracht, Miriam; Begemann, Matthias; Trepels-Kottek, Sonja; Hasan, Dimah; Scala, Marcello; Capra, Valeria; Zara, Federico; van der Ven, Amelie T.; Driemeyer, Joenna; Apitz, Christian; Krämer, Johannes; Strong, Alanna; Hakonarson, Hakon; Watson, Deborah; Mayr, Johannes A.; Prokisch, Holger; Meitinger, Thomas; Borggraefe, Ingo; Spiegler, Juliane; Baric, Ivo; Paolini, Marco; Gerstl, Lucia; Wagner, Matias
In Genetics in Medicine February 2024 26(2)
Academic Journal
Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, René G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schröter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Müller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rötig, Agnès; Santer, René; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmann, Saskia
In Genetics in Medicine June 2023 25(6)
Academic Journal
Houghton, David; Ng, Yi Shiau; Jackson, Matthew A.; Stefanetti, Renae; Hynd, Paula; Mac Aogáin, Micheál; Stewart, Christopher J.; Lamb, Christopher A.; Bright, Alexandra; Feeney, Catherine; Newman, Jane; Turnbull, Doug M.; McFarland, Robert; Blain, Alasdair P.; Gorman, Gráinne S.
In Gastro Hep Advances 2022 1(4):666-677
Academic Journal
Ng, Yi Shiau; Bindoff, Laurence A; Gorman, Gráinne S; Klopstock, Thomas; Kornblum, Cornelia; Mancuso, Michelangelo; McFarland, Robert; Sue, Carolyn M; Suomalainen, Anu; Taylor, Robert W; Thorburn, David R; Turnbull, Doug M
In The Lancet Neurology July 2021 20(7):573-584
Academic Journal
Bisschoff, Michelle; Smuts, Izelle; Dercksen, Marli; Schoonen, Maryke; Vorster, Barend C.; van der Watt, George; Spencer, Careni; Naidu, Kireshnee; Henning, Franclo; Meldau, Surita; McFarland, Robert; Taylor, Robert W.; Patel, Krutik; Fassad, Mahmoud R.; Vandrovcova, Jana; Wanders, Ronald J. A.; van der Westhuizen, Francois H.
Book
In Neurogenetics for the Practitioner 2024:373-387
Academic Journal
Ng, Yi Shiau; Lax, Nichola Z.; Maddison, Paul; Alston, Charlotte L.; Blakely, Emma L.; Hepplewhite, Philippa D.; Riordan, Gillian; Meldau, Surita; Chinnery, Patrick F.; Pierre, Germaine; Chronopoulou, Efstathia; Du, Ailian; Hughes, Imelda; Morris, Andrew A.; Kamakari, Smaragda; Chrousos, Georgia; Rodenburg, Richard J.; Saris, Christiaan G.J.; Feeney, Catherine; Hardy, Steven A.; Sakakibara, Takafumi; Sudo, Akira; Okazaki, Yasushi; Murayama, Kei; Mundy, Helen; Hanna, Michael G.; Ohtake, Akira; Schaefer, Andrew M.; Champion, Mike P.; Turnbull, Doug M.; Taylor, Robert W.; Pitceathly, Robert D.S.; McFarland, Robert; Gorman, Gráinne S.
In eBioMedicine April 2018 30:86-93
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[AR] McFarland, Robert
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