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Number of items at this level: 39.

2020

Simon, Anna K; Kummer, Sandra; Wild, Sebastian; Lezaja, Aleksandra; Teloni, Federico; Jozwiakowski, Stanislaw K; Altmeyer, Matthias; Gari, Kerstin (2020). The iron-sulfur helicase DDX11 promotes the generation of single-stranded DNA for CHK1 activation. Life Science Alliance, 3(3):e201900547.

2019

Jozwiakowski, Stanislaw K; Kummer, Sandra; Gari, Kerstin (2019). Human DNA polymerase delta requires an iron-sulfur cluster for high-fidelity DNA synthesis. Life Science Alliance, 2(4):201900321.

Brunner, Erich; Yagi, Ryohei; Debrunner, Marc; Beck-Schneider, Dezirae; Burger, Alexa; Escher, Eliane; Mosimann, Christian; Hausmann, George; Basler, Konrad (2019). CRISPR-induced double-strand breaks trigger recombination between homologous chromosome arms. Life Science Alliance, 2(3):e201800267.

Blache, Ulrich; Horton, Edward R; Xia, Tian; Schoof, Erwin M; Blicher, Lene H; Schönenberger, Angelina; Snedeker, Jess G; Martin, Ivan; Erler, Janine T; Ehrbar, Martin (2019). Mesenchymal stromal cell activation by breast cancer secretomes in bioengineered 3D microenvironments. Life Science Alliance, 2(3):e201900304.

Maxeiner, Sabrina; Grolleman, Judith; Schmid, Tobias; Kammenga, Jan; Hajnal, Alex (2019). The hypoxia-response pathway modulates RAS/MAPK-mediated cell fate decisions in Caenorhabditis elegans. Life Science Alliance, 2(3):e201800255.

Eggerschwiler, Benjamin; Canepa, Daisy D; Pape, Hans-Christoph; Casanova, Elisa A; Cinelli, Paolo (2019). Automated digital image quantification of histological staining for the analysis of the trilineage differentiation potential of mesenchymal stem cells. Stem Cell Research & Therapy, 10:69.

Soneson, Charlotte; Love, Michael I; Patro, Rob; Hussain, Shobbir; Malhotra, Dheeraj; Robinson, Mark D (2019). A junction coverage compatibility score to quantify the reliability of transcript abundance estimates and annotation catalogs. Life Science Alliance, 2(1):e201800175.

Petit, Gaetan; Cebolla, Ana Maria; Fattinger, Sara; Petieau, Mathieu; Summerer, Leopold; Cheron, Guy; Huber, Reto (2019). Local sleep-like events during wakefulness and their relationship to decreased alertness in astronauts on ISS. npj Microgravity, 5:10.

Matic, Jana; Zeltner, Nina A; Häberle, Johannes (2019). Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study. JIMD Reports, 43:1-6.

2018

ElGamacy, Mohammad; Coles, Murray; Ernst, Patrick; Zhu, Hongbo; Hartmann, Marcus D; Plückthun, Andreas; Lupas, Andrei N (2018). An Interface-Driven Design Strategy Yields a Novel, Corrugated Protein Architecture. ACS Synthetic Biology, 7(9):2226-2235.

Gorecka, Agata; Salemi, Souzan; Haralampieva, Deana; Moalli, Federica; Stroka, Deborah; Candinas, Daniel; Eberli, Daniel; Brugger, Lukas (2018). Autologous transplantation of adipose-derived stem cells improves functional recovery of skeletal muscle without direct participation in new myofiber formation. Stem Cell Research & Therapy, 9(1):195.

Cooper, Julia Promisel; Ginhoux, Florent; Jessberger, Sebastian; Overholtzer, Michael (2018). Life Science Alliance, from the Academic Editors. Life Science Alliance, 1(1):e201800044.

Guo, Tiannan; Li, Li; Zhong, Qing; Rupp, Niels J; Charmpi, Konstantina; Wong, Christine E; Wagner, Ulrich; Rueschoff, Jan H; Jochum, Wolfram; Fankhauser, Christian Daniel; Saba, Karim; Poyet, Cedric; Wild, Peter J; Aebersold, Ruedi; Beyer, Andreas (2018). Multi-region proteome analysis quantifies spatial heterogeneity of prostate tissue biomarkers. Life Science Alliance, 1(2):e201800042.

Rittweger, Jörn; Albracht, Kirsten; Flück, Martin; Ruoss, Severin; Brocca, Lorenza; Longa, Emanuela; Moriggi, Manuela; Seynnes, Olivier; Di Giulio, Irene; Tenori, Leonardo; Vignoli, Alessia; Capri, Miriam; Gelfi, Cecilia; Luchinat, Claudio; Francheschi, Claudio; Bottinelli, Roberto; Cerretelli, Paolo; Narici, Marco (2018). Sarcolab pilot study into skeletal muscle's adaptation to long-term spaceflight. npj Microgravity, 4:18.

2017

Thiel, Cora S; Huge, Andreas; Hauschild, Swantje; Tauber, Svantje; Lauber, Beatrice A; Polzer, Jennifer; Paulsen, Katrin; Lier, Hartwin; Engelmann, Frank; Schmitz, Burkhard; Schütte, Andreas; Layer, Liliana E; Ullrich, Oliver (2017). Stability of gene expression in human T cells in different gravity environments is clustered in chromosomal region 11p15.4. npj Microgravity, 3(1):1-22.

Laemmle, Alexander; Stricker, Tamar; Häberle, Johannes (2017). Switch from sodium phenylbutyrate to glycerol phenylbutyrate improved metabolic stability in an adolescent with ornithine transcarbamylase deficiency. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 31. Berlin, Heidelberg: Springer, 11-14.

Zeltner, Nina A; Baumgartner, Matthias R; Bondarenko, Aljona; Ensenauer, Regina; Karall, Daniela; Kölker, Stefan; Mühlhausen, Chris; Scholl-Bürgi, Sabine; Thimm, Eva; Quitmann, Julia; Burgard, Peter; Landolt, Markus A; Huemer, Martina (2017). Development and psychometric evaluation of the MetabQoL 1.0: a quality of life questionnaire for paediatric patients with intoxication-type inborn errors of metabolism. JIMD Reports, 37:27-35.

Fleger, M; Willomitzer, J; Meinsma, R; Alders, M; Meijer, J; Hennekam, R C M; Huemer, Martina; van Kuilenburg, A B P (2017). Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype? JIMD Reports, (37):49-54.

Kemper, E A; Boelen, A; Bosch, A M; van Veen-Sijne, M; van Rijswijk, C N; Bouva, M J; Fingerhut, Ralph; Schielen, P C J I (2017). Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening Programme. JIMD Reports, 32:1-6.

Riso, Brígida; Tupasela, Aaro; Vears, Danya F; Felzmann, Heike; Cockbain, Julian; Loi, Michele; Kongsholm, Nana C. H; Zullo, Silvia; Rakic, Vojin (2017). Ethical sharing of health data in online platforms – which values should be considered? Life Sciences, Society and Policy:13:12.

Khatami, Shohreh; Dehnabeh, Soghra Rouhi; Zeinali, Sirous; Thöny, Beat; Alaei, Mohammadreza; Salehpour, Shadab; Setoodeh, Aria; Rohani, Farzaneh; Hajivalizadeh, Fatemeh; Samavat, Ashraf (2017). Four years of diagnostic challenges with tetrahydrobiopterin deficiencies in Iranian patients. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 32. Berlin, Heidelberg: Springer, 1-8.

Zeltner, Nina A; Landolt, Markus A; Baumgartner, Matthias R; Lageder, Sarah; Quitmann, Julia; Sommer, Rachel; Karall, Daniela; Mühlhausen, Chris; Schlune, Andrea; Scholl-Bürgi, Sabine; Huemer, Martina (2017). Living with intoxication-type inborn errors of metabolism: a qualitative analysis of interviews with paediatric patients and their parents. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 31. Berlin, Heidelberg: Springer, 1-9.

Reigstad, Hallvard; Woldseth, Berit; Häberle, Johannes (2017). Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency. JIMD Reports, 37:45-47.

Lauber, Matthias; Plecko, Barbara; Pfiffner, Miriam; Nuoffer, Jean-Marc; Häberle, Johannes (2017). The effect of S-adenosylmethionine on self-mutilation in a patient with Lesch-Nyhan disease. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 32. Berlin, Heidelberg: Springer, 51-57.

Ienca, Marcello; Andorno, Roberto (2017). Towards new human rights in the age of neuroscience and neurotechnology. Life Sciences, Society and Policy, 13(1):5.

Chen, Ray Y; Via, Laura E; Dodd, Lori E; Walzl, Gerhard; Malherbe, Stephanus T; Loxton, André G; Dawson, Rodney; Wilkinson, Robert J; Thienemann, Friedrich; Tameris, Michele; Diacon, Andreas H; Liu, Xin; et al (2017). Using biomarkers to predict TB treatment duration (Predict TB): a prospective, randomized, noninferiority, treatment shortening clinical trial. Gates Open Research:1:9.

2016

Frippiat, Jean-Pol; Crucian, Brian E; de Quervain, Dominique J-F; Grimm, Daniela; Montano, Nicola; Praun, Siegfried; Roozendaal, Benno; Schelling, Gustav; Thiel, Manfred; Ullrich, Oliver; Choukèr, Alexander (2016). Towards human exploration of space: The THESEUS review series on immunology research priorities. npj Microgravity, 2:16040.

2015

Thiels, Charlotte; Fleger, Martin; Huemer, Martina; Rodenburg, Richard J; Vaz, Frederic M; Houtkooper, Riekelt H; Haack, Tobias B; Prokisch, Holger; Feichtinger, René G; Lücke, Thomas; Mayr, Johannes A; Wortmann, Saskia B (2015). Atypical clinical presentations of TAZ mutations: an underdiagnosed cause of growth retardation? In: Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima; Zschocke, Johannes; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 89-93.

Häberle, Johannes; Huemer, Martina (2015). Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines. JIMD Reports, 21:65-70.

Balasubramaniam, Shanti; Lewis, Barry; Greed, Lawrence; Meili, David; Flier, Annegret; Yamamoto, Raina; Bilić, Karmen; Till, Claudia; Sass, Jörn Oliver (2015). Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis. JIMD Reports, 29:33-38.

van Karnebeek, Clara D M; Stockler-Ipsiroglu, Sylvia; Jaggumantri, Sravan; Assmann, Birgit; Baxter, Peter; Buhas, Daniela; Bok, Levinus A; Cheng, Barbara; Coughlin, Curtis R; Das, Anibh M; Giezen, Alette; Al-Hertani, Wahla; Ho, Gloria; Meyer, Uta; Mills, Philippa; Plecko, Barbara; Struys, Eduard; Ueda, Keiko; Albersen, Monique; Verhoeven, Nanda; Gospe, Sidney M; Gallagher, Renata C; Van Hove, Johan K L; Hartmann, Hans (2015). Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: The PDE consortium consensus recommendations. In: Zschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena. JIMD Reports. Berlin Heidelberg: Springer, 47-57.

Kölker, Stefan; Dobbelaere, Dries; Häberle, Johannes; Burgard, Peter; Gleich, Florian; Summar, Marshall L; Hannigan, Steven; Parker, Samantha; Chakrapani, Anupam; Baumgartner, Matthias R (2015). Networking across borders for individuals with organic acidurias and urea cycle disorders: the E-IMD consortium. In: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 29-38.

Hahn, Andreas; Praetorius, Susanne; Karabul, Nesrin; Dießel, Johanna; Schmidt, Dorle; Motz, Reinald; Haase, Claudia; Baethmann, Martina; Hennermann, Julia B; Smitka, Martin; Santer, René; Muschol, Nicole; Meyer, Ann; Marquardt, Thorsten; Huemer, Martina; Thiels, Charlotte; Rohrbach, Marianne; Seyfullah, Gökce; Mengel, Eugen (2015). Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany. In: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 65-75.

Heiber, Stefanie; Zulewski, Henryk; Zaugg, Marianne; Kiss, Caroline; Baumgartner, Matthias (2015). Successful pregnancy in a woman with maple syrup urine disease: dase report. In: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 103-107.

2014

Sudarsanam, Annapurna; Singh, Harry; Wilcken, Bridget; Stormon, Michael; Arbuckle, Susan; Schmitt, Bernhard; Clayton, Peter; Earl, John; Webster, Richard (2014). Cirrhosis associated with pyridoxal 5'-phosphate treatment of pyridoxamine 5'-phosphate oxidase deficiency. In: Zschocke, Johannes; Gibson, K Michael; Brown, Garry; Morava, Eva; Peters, Verena. JIMD Reports. Berlin Heidelberg: Springer, 67-70.

2013

Hakenberg, Joerg; Nenadic, Goran; Rebholz-Schuhmann, Dietrich; Kim, Jin-Dong (2013). Literature mining solutions for life science research. Advances in Bioinformatics, 2013:320436.

Latychevskaia, Tatiana; Longchamp, Jean-Nicolas; Escher, Conrad; Fink, Hans-Werner (2013). Coherent diffraction and holographic imaging of individual biomolecules using low-energy electrons. In: Read, Randy; Urzhumtsev, Alexandre G; Lunin, Vladimir Y. Advancing Methods for Biomolecular Crystallography. Dordrecht: Springer, 331-342.

2012

Rajkumar, Arun S; Maerkl, Sebastian J (2012). Rapid Synthesis Of Defined Eukaryotic Promoter Libraries. ACS Synthetic Biology, 1:483-490.

2008

Kuhn, G; Gruber, P; Müller, R; Rühli, Frank J (2008). Three-dimensional evaluation of structures in small bones by micro-CT: tail fracture planes of autotomizing lizards (scincidae and gecconidae families). Internet Journal of Biological Anthropology, 1(2):published online.

This list was generated on Wed Jul 8 01:39:30 2020 CEST.