检索结果 - Backe, Paul Hoff

Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-d-phosphohexomutase superfamily 由 Backe, Paul Hoff, Laerdahl, Jon K., Kittelsen, Lene Svendsen, Dalhus, Bjørn, Mørkrid, Lars, Bjørås, Magnar

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The Chromatin Remodeling Factor SMARCB1 Forms a Complex with Human Cytomegalovirus Proteins UL114 and UL44 由 Ranneberg-Nilsen, Toril, Rollag, Halvor, Slettebakk, Ragnhild, Backe, Paul Hoff, Olsen, Øyvind, Luna, Luisa, Bjørås, Magnar

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Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type 由 Backe, Paul Hoff, Ytre-Arne, Mari, Røhr, Åsmund Kjendseth, Brodtkorb, Else, Fowler, Brian, Rootwelt, Helge, Bjørås, Magnar, Mørkrid, Lars

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Non-flipping DNA glycosylase AlkD scans DNA without formation of a stable interrogation complex 由 Ahmadi, Arash, Till, Katharina, Backe, Paul Hoff, Blicher, Pernille, Diekmann, Robin, Schüttpelz, Mark, Glette, Kyrre, Tørresen, Jim, Bjørås, Magnar, Rowe, Alexander D., Dalhus, Bjørn

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Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency 由 Ørstavik, Kristin, Arntzen, Kjell Arne, Mathisen, Per, Backe, Paul Hoff, Tangeraas, Trine, Rasmussen, Magnhild, Kristensen, Erle, Van Ghelue, Marijke, Jonsrud, Christoffer, Bliksrud, Yngve Thomas

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Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability 由 Bosshard, Matthias, Aprigliano, Rossana, Gattiker, Cristina, Palibrk, Vuk, Markkanen, Enni, Backe, Paul Hoff, Pellegrino, Stefania, Raymond, F. Lucy, Froyen, Guy, Altmeyer, Matthias, Bjørås, Magnar, Dianov, Grigory L., van Loon, Barbara

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Publisher Correction: Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability 由 Bosshard, Matthias, Aprigliano, Rossana, Gattiker, Cristina, Palibrk, Vuk, Markkanen, Enni, Backe, Paul Hoff, Pellegrino, Stefania, Raymond, F. Lucy, Froyen, Guy, Altmeyer, Matthias, Bjørås, Magnar, Dianov, Grigory L., Loon, Barbara van

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The SH3 domains of the protein kinases ITK and LCK compete for adjacent sites on T cell–specific adapter protein 由 Andersen, Thorny Cesilie Bie, Kristiansen, Per Eugen, Huszenicza, Zsuzsa, Johansson, Maria U., Gopalakrishnan, Ramakrishna Prabhu, Kjelstrup, Hanna, Boyken, Scott, Sundvold-Gjerstad, Vibeke, Granum, Stine, Sørli, Morten, Backe, Paul Hoff, Fulton, D. Bruce, Karlsson, B. Göran, Andreotti, Amy H., Spurkland, Anne

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A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge–Weber syndrome 由 Fjær, Roar, Marciniak, Katarzyna, Sundnes, Olav, Hjorthaug, Hanne, Sheng, Ying, Hammarström, Clara, Sitek, Jan Cezary, Vigeland, Magnus Dehli, Backe, Paul Hoff, Øye, Ane-Marte, Fosse, Johanna Hol, Stav-Noraas, Tor Espen, Uchiyama, Yuri, Matsumoto, Naomichi, Comi, Anne, Pevsner, Jonathan, Haraldsen, Guttorm, Selmer, Kaja Kristine

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ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences 由 Sumathipala, Dulika, Strømme, Petter, Fattahi, Zohreh, Lüders, Torben, Sheng, Ying, Kahrizi, Kimia, Einarsen, Ingunn Holm, Sloan, Jennifer L, Najmabadi, Hossein, van den Heuvel, Lambert, Wevers, Ron A, Guerrero-Castillo, Sergio, Mørkrid, Lars, Valayannopoulos, Vassili, Backe, Paul Hoff, Venditti, Charles P, van Karnebeek, Clara D, Nilsen, Hilde, Frengen, Eirik, Misceo, Doriana

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Biallelic variants in KIF14 cause intellectual disability with microcephaly 由 Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Gambin, Tomasz, Sorte, Hanne S., Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N., Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A., Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G., Lupski, James R., Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E.

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