Browse by ["viewname_eprint_publisher" not defined]

F

Fabian, Julia and Dworschak, Gabriel C. and Waffenschmidt, Lea and Schierbaum, Luca and Bendixen, Charlotte and Heilmann-Heimbach, Stefanie and Sivalingam, Sugirthan and Buness, Andreas and Schwarzer, Nicole and Boemers, Thomas M. and Schmiedeke, Eberhard and Neser, Jorg and Leonhardt, Johannes and Kosch, Ferdinand and Weih, Sandra and Gielen, Helen Maya and Hosie, Stuart and Kabs, Carmen and Palta, Markus and Maerzheuser, Stefanie and Bode, Lena Marie and Lacher, Martin and Schaefer, Frank-Mattias and Stehr, Maximilian and Knorr, Christian and Ure, Benno and Kleine, Katharina and Rolle, Udo and Zaniew, Marcin and Phillip, Grote and Zwink, Nadine and Jenetzky, Ekkehart and Reutter, Heiko and Hilger, Alina C. (2023) Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations. EUROPEAN JOURNAL OF HUMAN GENETICS, 31 (1). pp. 105-111. ISSN 1018-4813, 1476-5438

Foell, Juergen and Kleinschmidt, Katharina and Troeger, Anja and Turowski, Petra and Spachtholz, Rainer and Ahrens, Norbert and Brosig, Andreas-Michael and Evert, Matthias and Schmidt, Rene and Wolff, Daniel and Edinger, Matthias and Eyrich, Matthias and Handgretinger, Rupert and Ellinger, Susanne and Corbacioglu, Selim (2020) A Phase II Stratified Trial to Assess Haploidentical tdepleted Stem Cell Transplantation in Patients with Sickle Cell Disease with no Available Sibling Donor. In: 46th Annual Meeting of the EBMT, 29 August - 1 September, 2020, Virtuell.

H

Hofmann, Aybike and Vauth, Franziska and Roesch, Wolfgang H. (2021) Zinner syndrome and infertility-a literature review based on a clinical case. INTERNATIONAL JOURNAL OF IMPOTENCE RESEARCH, 33. pp. 191-195. ISSN 0955-9930, 1476-5489

N

Neumann, Roland P. and Gerull, Roland and Hasler, Pascal W. and Wellmann, Sven and Schulzke, Sven M. (2024) Vasoactive peptides as biomarkers for the prediction of retinopathy of prematurity. PEDIATRIC RESEARCH, 95 (7). pp. 1868-1874. ISSN 0031-3998, 1530-0447

S

Santoro, Deanna and Zibulsky, Devin A. and Roehr, Charles C. and Langhammer, Florian and Vento, Max and Szczapa, Tomasz and Fauchere, J. -c. and Dimitriou, Gabriel and Rabe, Heike and Mader, Silke and Zimmermann, Luc J. I. and Murray, Deirdre M. and Smith, Susan and Hall, Mike and Kuenzel, Manfred and Wellmann, Sven (2024) Meeting the need for effective and standardized neonatology training: a pan-European Master's Curriculum. PEDIATRIC RESEARCH, 96 (5). pp. 1195-1200. ISSN 0031-3998, 1530-0447

Schierbaum, L. M. and Fabian, J. and Herms, S. and Sivalingam, S. and Schneider, S. and Weber, S. and Roesch, W. and Merz, W. M. and Feldkoetter, M. and Reutter, H. and Hoppe, B. and Schalk, G. and Zaniew, M. and Hilger, A. (2020) New LUTO-candidate genes identified by systematic analysis of copy number variations in 152 patients. In: 53rd European Society of Human Genetics (ESHG) Conference, June 6–9, 2020, Virtuell.

Schlieben, Lea Dewi and Lenz, Dominic and Shimura, Masaru and Bianzano, Alyssa and Smirnov, Dmitrii and Kopajtich, Robert and Adam, Rudiger and Vogel, Georg-Friedrich and Baric, Ivo and Bufler, Philip and Burnyte, Birute and Calvo, Pier Luigi and Crushell, Ellen and Das, Anibh M. and Distelmaier, Felix and Freisinger, Peter and Hadzic, Nedim and Hartleif, Steffen and Hempel, Maja and Kansu, Aydan and Kaspar, Sonja and Kelly, Deidre and Knoppke, Birgit and Konstantopoulou, Vassiliki and Krylova, Tatiana and Alice, Kuster and Lainka, Elke and Lurz, Eberhard and Mandel, Hanna and McKiernan, Patrick and Piekutowska-Abramczuk, Dorota and Rotig, Agnes and Santer, Rene and Taylor, Robert and Wortmann, Saskia and Vockley, Jerry and Koelker, Stefan and Hoffmann, Georg Friedrich and Meitinger, Thomas and Murayama, Kei and Staufner, Christian and Prokisch, Holger (2023) The PALFES study: exome sequencing identified the genetic cause in 40% of 256 pediatric acute liver failure cases without aetiology. In: 55th European-Society of Human Genetics (ESHG) Conference, June 11-14, 2022, Vienna, Austria.

Staufer, Katharina and Huber, Heidemarie and Zessner-Spitzenberg, Jasmin and Stauber, Rudolf and Finkenstedt, Armin and Bantel, Heike and Weiss, Thomas S. and Huber, Markus and Markus, Rudolf and Starlinger, Patrick and Gruenberger, Thomas and Reiberger, Thomas and Sebens, Susanne and McIntyre, Gail and Tabibiazar, Ray and Giaccia, Amato and Zoller, Heinz and Trauner, Michael and Mikulits, Wolfgang (2023) Gas6 in chronic liver disease-a novel blood-based biomarker for liver fibrosis. CELL DEATH DISCOVERY, 9 (1): 282. ISSN , 2058-7716

W

Waffenschmidt, L. and Schneider, S. and Altmueller, J. and Thiele, H. and Weber, S. and Roesch, W. and Merz, W. M. and Feldkoetter, M. and Hoppe, B. and Schalk, G. and Zaniew, M. and Reutter, H. and Schreuder, M. F. and Beckers, G. M. A. and van Wijk, J. A. E. and Hilger, A. C. (2020) ZSCAN12, a candidate gene for congenital lower urinary tract obstruction (LUTO). In: 53rd European Society of Human Genetics (ESHG) Conference, June 6–9, 2020, Virtuell.

Wahl, Anna-Maria and Bose-O'Reilly, Stephan and Mambrey, Viola and Rooney, James P. K. and Shoko, Dennis and Moyo, Dingani and Muteti-Fana, Shamiso and Steckling-Muschack, Nadine and Rakete, Stefan (2022) Analysis of the Mercury Distribution in Blood as a Potential Tool for Exposure Assessment - Results from Two Artisanal and Small-Scale Gold Mining Areas in Zimbabwe. BIOLOGICAL TRACE ELEMENT RESEARCH, 200 (3). pp. 961-968. ISSN 0163-4984, 1559-0720