Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Holger, Cario"'
Autor:
Alistair T. Pagnamenta, Carme Camps, Edoardo Giacopuzzi, John M. Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schwessinger, Jim R. Hughes, Gerton Lunter, Helene Dreau, Matteo Ferla, Lukas Lange, Yesim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Baños-Piñero, David Beeson, Tal Ben-Ami, David L. Bennett, Celeste Bento, Edward Blair, Charlotte Brasch-Andersen, Katherine R. Bull, Holger Cario, Deirdre Cilliers, Valerio Conti, E. Graham Davies, Fatima Dhalla, Beatriz Diez Dacal, Yin Dong, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg Hollander, Kassim Javaid, Maureen Kane, Deirdre Kelly, Dominic Kelly, Samantha J. L. Knight, Alexandra Y. Kreins, Erika M. Kvikstad, Craig B. Langman, Tracy Lester, Kate E. Lines, Simon R. Lord, Xin Lu, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlcochova, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Chris Pugh, Aboulfazl Rad, Archana Ramesh, Simone G. Riva, Irene Roberts, Noémi Roy, Outi Salminen, Kyleen D. Schilling, Caroline Scott, Arjune Sen, Conrad Smith, Mark Stevenson, Rajesh V. Thakker, Stephen R. F. Twigg, Holm H. Uhlig, Richard van Wijk, Barbara Vona, Steven Wall, Jing Wang, Hugh Watkins, Jaroslav Zak, Anna H. Schuh, Usha Kini, Andrew O. M. Wilkie, Niko Popitsch, Jenny C. Taylor
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Abstract Background Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly l
Externí odkaz:
https://doaj.org/article/c9f00f4d0c70402d8c69f3f7e4981fbc
Autor:
Helge Hebestreit, Anne-Marie Lapstich, Lilly Brandstetter, Christian Krauth, Jürgen Deckert, Kirsten Haas, Lisa Pfister, Stefanie Witt, Christopher Schippers, Jan Dieris-Hirche, Tim Maisch, Oliver Tüscher, Lavinia Bârlescu, Alexandra Berger, Mark Berneburg, Vanessa Britz, Anna Deibele, Holm Graeßner, Harald Gündel, Gereon Heuft, Thomas Lücke, Christine Mundlos, Julia Quitmann, Frank Rutsch, Katharina Schubert, Jörg Bernhard Schulz, Susann Schweiger, Cornelia Zeidler, Lena Zeltner, Martina de Zwaan, Federica Akkaya, Christine Babka, Lisa Bannert, Anja Bärsch-Michelmann, Leonie Böhm, Folke Brinkmann, Monika Bullinger, Holger Cario, Moritz de Greck, Klaus-Michael Debatin, Katrin Dillmann-Jehn, Jutta Eymann, Julia Frisch, Anja Glode, Vega Gödecke, Corinna Grasemann, Eva Grauer, Astrid Haas, Lea Haisch, Isabell, Heinrich, Melissa Held, Julia Hennermann, Stephan Herpertz, Anne Herrmann-Werner, Julian Hett, Peter Heuschmann, Bettina Hilbig, Laura Holthöfer, Christiane Imhof, Florian Junne, Jan Kassubek, Kevin-Thomas Koschitzki, Heike Krassort, Birgit Kropff, Julia Kuhn, Philipp Latzko, Thomas Loew, Albert C. Ludolph, Torsten Meyer, Isabell Meyer dos Santos, Klaus Mohnike, Martina Monninger, Martin Mücke, Susanne Müller, Thomas Musacchio, Margret Nießen, Mariel Nöhre, Stephan Ott, Andrea Petermann-Meyer, Christina Pfeifer-Duck, Lea-Sophie Piduhn, Carina Rampp, Olaf Rieß, Kristina Schaubert, Annika Schmidt, Simone Schneider, Ludger Schoels, Martina Schwalba, Udo Selig, Alexandra Sroka, Toni Steinbüchel, Sebastian Stösser, Steffi Suchant, Kathrin Ungethüm, Matthias Vogel, Daniela Volk, Christoph Vollmuth, Solange Volnov, Thomas O.F. Wagner, Sabrina Walter, Bodo Warrings, Kamil Zajt, Karola Zenker, David Zhang, Stephan Zipfel, Lavinia Aurelia Bârlescu, Julia Hannah Quitmann, Jörg B. Schulz, Lena Margarete Zeltner
Publikováno v:
EClinicalMedicine, Vol 65, Iss , Pp 102260- (2023)
Summary: Background: People with complex symptomatology but unclear diagnosis presenting to a centre for rare diseases (CRD) may present with mental (co-)morbidity. We hypothesised that combining an expert in somatic medicine with a mental health spe
Externí odkaz:
https://doaj.org/article/7104fbd316dd40be90da99c4bb8c26c0
Autor:
Carmen Aramayo-Singelmann, Susan Halimeh, Pia Proske, Abinuja Vignalingarajah, Holger Cario, Morten O. Christensen, Raina Yamamoto, Alexander Röth, Dirk Reinhardt, Hans Christian Reinhardt, Ferras Alashkar
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract This monocentric study conducted at the Pediatric and Adult Hemoglobinopathy Outpatient Units of the University Hospital of Essen summarizes the results of hemoglobinopathies diagnosed between August 2018 and September 2021, prior to the int
Externí odkaz:
https://doaj.org/article/480ec62d89f545deb4998a9367fae3cc
Autor:
Valéna Karaghiannis, Darko Maric, Céline Garrec, Nada Maaziz, Alexandre Buffet, Loïc Schmitt, Vincent Antunes, Fabrice Airaud, Bernard Aral, Amandine Le Roy, Sébastien Corbineau, Lamisse Mansour-Hendili, Valentine Lesieur, Antoine Rimbert, Fabien Laporte, Marine Delamare, Minke Rab, Stéphane Bézieau, Bruno Cassinat, Frédéric Galacteros, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Holger Cario, Richard van Wijk, Celeste Bento, François Girodon, David Hoogewijs, Betty Gardie
Publikováno v:
Haematologica, Vol 108, Iss 6 (2023)
Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with hereditary erythrocytosis that can be associated with the development of paraganglioma, pheochromocytoma and somatostatinoma. In the present study, we describe a
Externí odkaz:
https://doaj.org/article/d370565ff3d9457892e7dd6d85e42fcb
Autor:
Franz X. Mayr, Alexander Bertram, Holger Cario, Michael C. Frühwald, Hans-Jürgen Groß, Arndt Groening, Stefanie Grützner, Thomas Gscheidmeier, Reinhard Hoffmann, Alexander Krebs, Hans-Georg Ruf, Antje Torge, Joachim Woelfle, Oliver Razum, Manfred Rauh, Markus Metzler, Jakob Zierk
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Abstract Reference intervals for laboratory test results have to be appropriate for the population in which they are used to be clinically useful. While sex and age are established partitioning criteria, patients’ origin also influences laboratory
Externí odkaz:
https://doaj.org/article/8baf5a74253541128ee6022c0edbc56c
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Iron deficiency anemia has a high prevalence in children and has repeatedly been implicated as a risk factor for arterial and venous thrombosis. As an effective therapy for iron deficiency anemia is available, understanding the association between th
Externí odkaz:
https://doaj.org/article/092aa780fa4a4eed9e4eca4cf2def943
Autor:
Pierre Allard, Nareen Alhaj, Stephan Lobitz, Holger Cario, Andreas Jarisch, Regine Grosse, Lena Oevermann, Dani Hakimeh, Laura Tagliaferri, Elisabeth Kohne, Annette Kopp-Schneider, Andreas E. Kulozik, Joachim B. Kunz
Publikováno v:
Haematologica, Vol 107, Iss 7 (2021)
The course of sickle cell disease (SCD) is modified by polymorphisms boosting fetal hemoglobin (HbF) synthesis. However, it has remained an open question how these polymorphisms affect patients who are treated with the HbF-inducing drug hydroxyurea/
Externí odkaz:
https://doaj.org/article/6917040d732d4b14a269d5e926b9d34b
Autor:
Anna-Lydia Peschmann, Meinrad Beer, Bettina Ammann, Jens Dreyhaupt, Katharina Kneer, Ambros J. Beer, Christian Beltinger, Daniel Steinbach, Holger Cario, Henning Neubauer
Publikováno v:
European Radiology Experimental, Vol 3, Iss 1, Pp 1-10 (2019)
Abstract Background Quantitative diffusion-weighted imaging (DWI) probes into tissue microstructure in solid tumours. In this retrospective ethically approved study, we investigated DWI as a potential non-invasive predictor of tumour dignity and prog
Externí odkaz:
https://doaj.org/article/9426809a27014eacadb5422b3a2e0e8e
Autor:
Holger Cario
Publikováno v:
Transfusionsmedizin. 13:30-38
ZusammenfassungDie komplexe Behandlung von Patienten mit Thalassämien stellt nicht nur eine medizinische, sondern angesichts der in den letzten Jahren deutlich gestiegenen Patientenzahlen auch eine gesellschaftliche Herausforderung dar, die eine seh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8de803e019b8df6f074263b86f7f252f
https://doi.org/10.1055/a-1966-5765
https://doi.org/10.1055/a-1966-5765
Autor:
Arthur P, Wunderlich, Holger, Cario, Stephan, Kannengießer, Veronika, Grunau, Lena, Hering, Michael, Götz, Meinrad, Beer, Stefan Andreas, Schmidt
Publikováno v:
RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren. 195:224-233
Purpose MR transverse relaxation rate R2* has been shown to be useful for monitoring liver iron overload. A sequence enabling acquisition of the whole liver in a single breath hold is now available, thus allowing volumetric hepatic R2* distribution s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60d87659614596d333fe236c2166453c
https://doi.org/10.1055/a-1976-910
https://doi.org/10.1055/a-1976-910