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Journal Article
Bamborschke, Daniel, Pergande, Matthias, Becker, Kerstin, Koerber, Friederike, Doetsch, Joerg, Vierzig, Anne, Weber, Lutz T. and Cirak, Sebahattin (2018). A novel mutation in sphingosine-1-phosphate lyase causing congenital brain malformation. Brain Dev., 40 (6). S. 480 - 484. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 1872-7131
Beygo, Jasmin, Elbracht, Miriam, de Groot, Karel 
ORCID: 0000-0003-4554-9796, Begemann, Matthias ORCID: 0000-0002-4659-8437, Kanber, Deniz, Platzer, Konrad ORCID: 0000-0001-6127-6308, Gillessen-Kaesbach, Gabriele, Vierzig, Anne, Green, Andrew ORCID: 0000-0002-1077-7417, Heller, Raoul, Buiting, Karin and Eggermann, Thomas
(2015).
Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32.
Eur. J. Hum. Genet., 23 (2).
S. 180 - 189.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438
Eifinger, Frank, Vierzig, Anne, Roth, Bernhard, Scaal, Martin and Koerber, Friederike (2016). The pericardial reflection and the tip of the central venous catheter - topographical analysis in stillborn babies. Pediatr. Radiol., 46 (11). S. 1528 - 1532. NEW YORK: SPRINGER. ISSN 1432-1998
Hackl, Agnes, Mehler, Katrin, Gottschalk, Ingo, Vierzig, Anne, Eydam, Marcus, Hauke, Jan, Beck, Bodo B., Liebau, Max C., Ensenauer, Regina, Weber, Lutz T. and Habbig, Sandra (2017). Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. Pediatr. Nephrol., 32 (5). S. 791 - 801. NEW YORK: SPRINGER. ISSN 1432-198X
Poets, Christian F., Maas, Christoph, Buchenau, Wolfgang, Arand, Joerg, Vierzig, Anne, Braumann, Bert and Mueller-Hagedorn, Silvia (2017). Multicenter study on the effectiveness of the pre-epiglottic baton plate for airway obstruction and feeding problems in Robin sequence. Orphanet J. Rare Dis., 12. LONDON: BIOMED CENTRAL LTD. ISSN 1750-1172
Schalk, Gesa, Ehren, Rasmus, Vierzig, Anne, Kirschfink, Michael, Bergmann, Carsten, Hoppe, Bernd and Weber, Lutz Thorsten (2014). A Complicated Case Of Atypical Hemolytic Uremic Syndrom With Frequent Relapses Under Eculizumab. Pediatr. Nephrol., 29 (9). S. 1818 - 1819. NEW YORK: SPRINGER. ISSN 1432-198X
Schwahn, Bernd C., Van Spronsen, Francjan J., Belaidi, Abdel A., Bowhay, Stephen, Christodoulou, John ORCID: 0000-0002-8431-0641, Derks, Terry G., Hennermann, Julia B., Jameson, Elisabeth, Koenig, Kai, McGregor, Tracy L., Font-Montgomery, Esperanza, Santamaria-Araujo, Jose A., Santra, Saikat ORCID: 0000-0002-7497-3556, Vaidya, Mamta, Vierzig, Anne, Wassmer, Evangeline, Weis, Ilona, Wong, Flora Y., Veldman, Alex and Schwarz, Guenter ORCID: 0000-0002-2118-9338
(2015).
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
Lancet, 386 (10007).
S. 1955 - 1964.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1474-547X
Wang, Xinzhu, Nijman, Ruud, Camuzeaux, Stephane ORCID: 0000-0002-4614-4662, Sands, Caroline ORCID: 0000-0002-3749-7941, Jackson, Heather ORCID: 0000-0002-1054-9983, Kaforou, Myrsini, Emonts, Marieke, Herberg, Jethro A., Maconochie, Ian ORCID: 0000-0001-6319-8550, Carrol, Enitan D., Paulus, Stephane C., Zenz, Werner, Van der Flier, Michiel, de Groot, Ronald, Martinon-Torres, Federico ORCID: 0000-0002-9023-581X, Schlapbach, Luregn J., Pollard, Andrew J., Fink, Colin, Kuijpers, Taco T., Anderson, Suzanne, Lewis, Matthew R., Levin, Michael ORCID: 0000-0003-2767-6919, McClure, Myra, Gormley, Stuart, Hamilton, Shea, Hourmat, Bernardo, Hoggart, Clive, Sancho-Shimizu, Vanessa, Wright, Victoria ORCID: 0000-0001-7826-1516, Abdulla, Amina, Agapow, Paul, Bartlett, Maeve, Bellos, Evangelos ORCID: 0000-0002-5876-6549, Eleftherohorinou, Hariklia, Galassini, Rachel, Inwald, David ORCID: 0000-0001-9518-7821, Mashbat, Meg, Menikou, Stefanie, Mustafa, Sobia, Nadel, Simon, Rahman, Rahmeen, Thakker, Clare, Coin, Lachlan M. J., Bokhand, S., Power, Sue, Barham, Heather, Pathan, N., Ridout, Jenna, White, Deborah, Thurston, Sarah, Faust, S., Patel, S., McCorkell, Jenni, Davies, P., Crate, Lindsey, Navarra, Helen, Carter, Stephanie, Ramaiah, R., Patel, Rekha, Tuffrey, Catherine, Gribbin, Andrew, McCready, Sharon, Peters, Mark, Hardy, Katie, Standing, Fran, O'Neill, Lauren, Abelake, Eugenia, Deep, Akash, Nsirim, Eniola, Willis, Louise, Young, Zoe, Royad, C., White, Sonia, Fortune, P. M., Hudnott, Phil, Alvez Gonzalez, Fernando, Barral-Arca, Ruth, Cebey-Lopez, Miriam, Jose Curras-Tuala, Maria, Garcia, Natalia, Garcia Vicente, Luisa, Gomez-Carballa, Alberto ORCID: 0000-0003-0927-1272, Gomez Rial, Jose, Grela Beiroa, Andrea, Justicia Grande, Antonio, Leborans Iglesias, Pilar, Martinez Santos, Alba Elena, Martinon-Torres, Federico ORCID: 0000-0002-9023-581X, MartinonTorres, Nazareth, Martinon Sanchez, Jose Maria, Morillo Gutierrez, Beatriz, Mosquera Perez, Belen, Obando Pacheco, Pablo, Pardo-Seco, Jacobo, Pischedda, Sara, RiveroCalle, Irene, Rodriguez-Tenreiro, Carmen, Redondo-Collazo, Lorenzo, Salas Ellacuriagal, Antonio, Seren Fernandez, Sonia, Porto Silva, Maria del Sol, Vega, Ana, Vilanova Trillo, Lucia, Salas, Antonio, Beatriz Reyes, Susana, Leon Leon, Maria Cruz, Navarro Mingorance, Alvaro, Gabaldo Barrios, Xavier, Onate Vergara, Eider, Concha Torre, Andres, Vivanco, Ana, Fernandez, Reyes, Gimenez Sanchez, Francisco, Sanchez Forte, Miguel, Rojo, Pablo, Ruiz Contreras, J., Palacios, Alba, Epalza Ibarrondo, Cristina, Fernandez Cooke, Elizabeth, Navarro, Marisa, Alvarez Alvarez, Cristina, Jose Lozano, Maria, Carreras, Eduardo, Brio Sanagustin, Sonia, Neth, Olaf ORCID: 0000-0001-5018-0466, Martinez Padilla, Ma del Carmen, Prieto Tato, Luis Manuel, Guillen, Sara, Fernandez Silveira, Laura, Moreno, David, van Furth, A. M. Tutu, Boeddha, N. P., Driessen, G. J. A., Emonts, M., Hazelzet, J. A., Pajkrt, D., Sanders, E. A. M., van de Beek, D., van der Ende, A., Philipsen, H. L. A., Adeel, A. O. A., Breukels, M. A., Brinkman, D. M. C., de Korte, C. C. M. M., de Vries, E., de Waal, W. J., Dekkers, R., Dings-Lammertink, A., Doedens, R. A., Donker, A. E., Dousma, M., Faber, T. E., Gerrits, G. P. J. M., Gerver, J. A. M., Heidema, J., Homan-van der Veen, J., Jacobs, M. A. M., Jansen, N. J. G., Kawczynski, P., Klucovska, K., Kneyber, M. C. J., Koopman-Keemink, Y., Langenhorst, V. J., Leusink, J., Loza, B. F., Merth, I. T., Miedema, C. J., Neeleman, C., Noordzij, J. G., Obihara, C. C., van Overbeek-van Gils, A. L. T., Poortman, G. H., Potgieter, S. T., Potjewijd, J., Rosias, P. P. R., Sprong, T., ten Tussher, G. W., Thio, B. J., Tramper-Stranders, G. A., van Deuren, M., van der Meer, H., van Kuppevelt, A. J. M., van Wermeskerken, A. M., Verwijs, W. A., Wolfs, T. F. W., Agyeman, Philipp ORCID: 0000-0002-8339-5444, Aebi, Christoph, Berger, Christoph, Agyeman, Philipp ORCID: 0000-0002-8339-5444, Aebi, Christoph, Giannoni, Eric ORCID: 0000-0003-0897-6529, Stocker, Martin, Posfay-Barbe, Klara M., Heininger, Ulrich, Bernhard-Stirnemann, Sara, Niederer-Loher, Anita, Kahlert, Christian, Hasters, Paul, Relly, Christa, Baer, Walter, Berger, Christoph, Frederick, Hannah, Jennings, Rebecca, Johnston, Joanne, Kenwright, Rhian, Pinnock, Elli, Agbeko, Rachel, Secka, Fatou, Bojang, Kalifa, Sarr, Isatou, Kebbeh, Ngange, Sey, Gibbi, Momodou, Saidy Khan, Cole, Fatoumata, Thomas, Gilleh, Antonio, Martin, Klobassa, Daniela S., Binder, Alexander, Schweintzger, Nina A., Sagmeister, Manfred, Baumgart, Hinrich, Baumgartner, Markus, Behrends, Uta, Biebl, Ariane, Birnbacher, Robert, Blanke, Jan-Gerd, Boelke, Carsten, Breuling, Kai, Brunner, Juergen, Buller, Maria, Dahlem, Peter, Dietrich, Beate, Eber, Ernst, Elias, Johannes, Emhofer, Josef, Etschmaier, Rosa, Farr, Sebastian, Girtler, Ylenia, Grigorow, Irina, Heimann, Konrad, Ihm, Ulrike, Jaros, Zdenek, Kalhoff, Hermann ORCID: 0000-0003-0911-2511, Kaulfersch, Wilhelm, Kemen, Christoph, Klocker, Nina, Koester, Bernhard, Kohlmaier, Benno, Komini, Eleni, Kramer, Lydia, Neubert, Antje, Ortner, Daniel, Pescollderungg, Lydia, Pfurtscheller, Klaus, Reiter, Karl, Ristic, Goran, Roedl, Siegfried, Sellner, Andrea, Sonnleitner, Astrid, Sperl, Matthias, Stelzl, Wolfgang, Till, Holger, Trobisch, Andreas ORCID: 0000-0003-2679-1173, Vierzig, Anne, Vogel, Ulrich, Weingarten, Christina, Welke, Stefanie, Wimmer, Andreas, Wintergerst, Uwe, Wueller, Daniel, Zaunschirm, Andrew, Ziuraite, Ieva and Zukovskaja, Veslava
(2019).
Plasma lipid profiles discriminate bacterial from viral infection in febrile children.
Sci Rep, 9.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 2045-2322
Wittmann, Thomas, Frixel, Sabrina, Hoeppner, Stefanie, Schindlbeck, Ulrike, Schams, Andrea, Kappler, Matthias, Hegermann, Jan, Wrede, Christoph, Liebisch, Gerhard ORCID: 0000-0003-4886-0811, Vierzig, Anne, Zacharasiewicz, Angela, Kopp, Matthias Volkmar, Poets, Christian F., Baden, Winfried, Hartl, Dominik, van Kaam, Anton H., Lohse, Peter, Aslanidis, Charalampos, Zarbock, Ralf and Griese, Matthias
(2016).
Increased Risk of Interstitial Lung Disease in Children with a Single R288K Variant of ABCA3.
Mol. Med., 22.
MANHASSET:
FEINSTEIN INST MED RES.
ISSN 1528-3658