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Anzahl der Publikationen: 4
Zeitschriftenartikel
Ahn, Minkoo; Wlodarski, Tomasz; Mitropoulou, Alkistis; Chan, Sammy H. S.; Sidhu, Haneesh; Plessa, Elena; Becker, Thomas A.; Budisa, Nediljko; Waudby, Christopher A.; Beckmann, Roland; Cassaignau, Anais M. E.; Cabrita, Lisa D. und Christodoulou, John
(2022):
Modulating co-translational protein folding by rational design and ribosome engineering.
In: Nature Communications, Bd. 13, Nr. 1, 4243
Karaa, Amel; MacMullen, Laura E. 
ORCID: https://orcid.org/0000-0003-2458-6889; Campbell, John C.; Christodoulou, John; Cohen, Bruce H.; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Koga, Yasutoshi; Lamperti, Costanza; Maanen, Robert van; McFarland, Robert; Parikh, Sumit; Rahman, Shamima; Scaglia, Fernando; Sherman, Alexander V.; Yeske, Philip und Falk, Marni J.
(2022):
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
In: Advanced Genetics, Bd. 3, Nr. 1, 2100047
[PDF, 878kB]
ORCID: https://orcid.org/0000-0003-2458-6889; Campbell, John C.; Christodoulou, John; Cohen, Bruce H.; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Koga, Yasutoshi; Lamperti, Costanza; Maanen, Robert van; McFarland, Robert; Parikh, Sumit; Rahman, Shamima; Scaglia, Fernando; Sherman, Alexander V.; Yeske, Philip und Falk, Marni J.
(2022):
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
In: Advanced Genetics, Bd. 3, Nr. 1, 2100047
[PDF, 878kB]
Li, Dong; Wang, Qin; Gong, Naihua N.; Kurolap, Alina; Feldman, Hagit Baris; Boy, Nikolas; Brugger, Melanie; Grand, Katheryn; McWalter, Kirsty; Sacoto, Maria J. Guillen; Wakeling, Emma; Hurst, Jane; March, Michael E.; Bhoj, Elizabeth J.; Nowaczyk, Malgorzata J. M.; Gonzaga-Jauregui, Claudia; Mathew, Mariam; Dava-Wala, Ashita; Siemon, Amy; Bartholomew, Dennis; Huang, Yue; Lee, Hane; Martinez-Agosto, Julian A.; Schwaibold, Eva M. C.; Brunet, Theresa; Choukair, Daniela; Pais, Lynn S.; White, Susan M.; Christodoulou, John; Brown, Dana; Lindstrom, Kristin; Grebe, Theresa; Tiosano, Dov; Kayser, Matthew S.; Tan, Tiong Yang; Deardorff, Matthew A.; Song, Yuanquan und Hakonarson, Hakon
(2021):
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.
In: Science Advances, Bd. 7, Nr. 20, eabf2066
Wortmann, Saskia B.; Zietkiewicz, Szymon; Guerrero-Castillo, Sergio; Feichtinger, Rene G.; Wagner, Matias; Russell, Jacqui; Ellaway, Carolyn; Mroz, Dagmara; Wyszkowski, Hubert; Weis, Denisa; Hannibal, Iris; Stuelpnagel, Celina von; Cabrera-Orefice, Alfredo; Lichter-Konecki, Uta; Gaesser, Jenna; Windreich, Randy; Myers, Kasiani C.; Lorsbach, Robert; Dale, Russell C.; Gersting, Soren; Prada, Carlos E.; Christodoulou, John; Wolf, Nicole I.; Venselaar, Hanka; Mayr, Johannes A. und Wevers, Ron A.
(2021):
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
In: Genetics in Medicine, Bd. 23, Nr. 9: S. 1705-1714