Rezultati - Julia Mohr

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  1. 1
    Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes

    Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes od Rainer Büscher, Anja Büscher, Stefanie Weber, Julia Mohr, Bianca Hegen, Udo Vester, Peter F. Hoyer

    Izdano 2013
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  2. 2
    Detailed analysis of p53 pathway defects in fludarabine-refractory chronic lymphocytic leukemia (CLL): dissecting the contribution of 17p deletion, TP53 mutation, p53-p21 dysfunction, and miR34a in a prospective clinical trial

    Detailed analysis of p53 pathway defects in fludarabine-refractory chronic lymphocytic leukemia (CLL): dissecting the contribution of 17p deletion, TP53 mutation, p53-p21 dysfuncti... od Thorsten Zenz, Sonja Häbe, Tina Denzel, Julia Mohr, Dirk Winkler, Andreas Bühler, Antonio Sarno, Silja Groner, Daniel Mertens, Raymonde Busch, Michael Hallek, Hartmut Döhner, Stephan Stilgenbauer

    Izdano 2009
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  3. 3
    miR-34a as part of the resistance network in chronic lymphocytic leukemia

    miR-34a as part of the resistance network in chronic lymphocytic leukemia od Thorsten Zenz, Julia Mohr, Eric Eldering, Arnon P. Kater, Andreas Bühler, Dirk Kienle, Dirk Winkler, Jan Dürig, Marinus H. J. van Oers, Daniel Mertens, Hartmut Döhner, Stephan Stilgenbauer

    Izdano 2008
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  4. 4
    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

    Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies od Nicola Glöckle, Susanne Kohl, Julia Mohr, Tim Scheurenbrand, Andrea Sprecher, Nicole Weisschuh, Antje Bernd, Günther Rudolph, Max Schubach, Charlotte M. Poloschek, Eberhart Zrenner, Saskia Biskup, Wolfgang Berger, Bernd Wissinger, John Neidhardt

    Izdano 2013
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  5. 5
    SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

    SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis od Julien H. Park, Christiane Elpers, Janine Reunert, Michael L. McCormick, Julia Mohr, Saskia Biskup, Oliver Schwartz, Stephan Rust, Marianne Grüneberg, Anja Seelhöfer, Ulrike Schara, Eugen Boltshauser, Douglas R. Spitz, Thorsten Marquardt

    Izdano 2019
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  6. 6
    Microbiome-driven allergic lung inflammation is ameliorated by short-chain fatty acids

    Microbiome-driven allergic lung inflammation is ameliorated by short-chain fatty acids od Alissa Cait, Michael R. Hughes, Frann Antignano, Jessica Cait, Pedro A. Dimitriu, Kendra Maas, Lisa A. Reynolds, L Hacker, Julia Mohr, B. Brett Finlay, Colby Zaph, Kelly M. McNagny, William W. Mohn

    Izdano 2017
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  7. 7
    Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

    Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis od Hans F. A. Vasen, JT Wijnen, FH Menko, JH Kleibeuker, B. G. Taal, G Griffioen, F. M. Nagengast, E. H. Meijers-Heijboer, Lucio Bertario, Liliana Varesco, ML Bisgaard, Julia Mohr, Riccardo Fodde, PM Khan

    Izdano 1996
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  8. 8
    Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism

    Novel variants in the SOX11 gene: additional evidence for the involvement of SOX11 in hypogonadotropic hypogonadism od Társis Paiva Vieira, Beatriz Schincariol-Manhe, Érica Campagnolo, Samira Spineli‐Silva, Nicole de Leeuw, Gabriela Roldão Correia‐Costa, André Luiz Santos Pessoa, Carolina Fischinger Moura de Souza, Cathy A. Stevens, Poupak Javaher, Helena Scallet, Julia Mohr, Saskia Biskup, Johanna C. Herkert, Rolph Pfundt, Lakshmi Mehta, Aisha Rekab, Houda Zghal Elloumi, Andréa Trevas Maciel‐Guerra, Vera Lúcia Gil‐da‐Silva‐Lopes, Ana dos Santos, May Sanyoura

    Izdano 2024
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  9. 9
    Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

    Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies od Maike F. Dohrn, Nicola Glöckle, Lejla Mulahasanovic, Corina Heller, Julia Mohr, Christine Bauer, Erik Riesch, Andrea C. Becker, Florian Battke, Konstanze Hörtnagel, Thorsten Hornemann, Saranya Suriyanarayanan, Markus Blankenburg, Jörg B. Schulz, Kristl G. Claeys, Burkhard Gess, István Katona, A. Ferbert, Debora Vittore, Alexander Grimm, Stefan Wolking, Lüdger Schöls, Holger Lerche, Georg Christoph Korenke, Dirk Fischer, Bertold Schrank, Urania Kotzaeridou, Gerhard Kurlemann, Bianca Dräger, Anja Schirmacher, Peter Young, Beate Schlotter‐Weigel, Saskia Biskup

    Izdano 2017
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  10. 10
    “What I thought was so important isn’t really that important”: international perspectives on making meaning during the first wave of the COVID-19 pandemic

    “What I thought was so important isn’t really that important”: international perspectives on making meaning during the first wave of the COVID-19 pandemic od Irina Todorova, Liesemarie Albers, Nicole Aronson, Adriana Băban, Yael Benyamini, Sabrina Cipolletta, María del Río Carral, Elitsa Dimitrova, Claire Dudley, Mariana T. Guzzardo, Razan Hammoud, Darlina Hani Fadil Azim, Femke Hilverda, Qi Huang, Liji John, Michaela Kaneva, Sanjida Khan, Zlatina Kostova, Tatyana Kotzeva, M. Fathima, Milu Maria Anto, Chloé Michoud, Mohammad Abdul Awal Miah, Julia Mohr, Kàren Morgan, Elena Simona Nastase, Efrat Neter, Yulia Panayotova, Hemali Patel, Dhanya Pillai, Manuela Polidoro Lima, Desirée Baolian Qin, Christel Salewski, K. Anu Sankar, Shihuan Shao, Jeevanisha Suresh, Ralitsa Todorova, Silvia Caterina Maria Tomaino, Manja Vollmann, David A. Winter, Mingjun Xie, Sam Xuan Ning, Asya Zlatarska

    Izdano 2021
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  11. 11
    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

    De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects od Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. Mendes, Matthew J. Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, María Rodríguez‐López, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep S. Walia, Christopher S. Francklyn, Alkyoni Athanasiou‐Fragkouli, Roisin Sullivan, Sonal Desai, Kristin Barañano, Faisal Zafar, Nuzhat Rana, Muhammad Ilyas, Alejandro Horga, Majdi Kara, Francesca Mattioli, Alice Goldenberg, Helen Griffin, Amélie Piton, Lindsay B. Henderson, Benyekhlef Kara, Ayça Dilruba Aslanger, Joost Raaphorst, Rolph Pfundt, R Portier, Marwan Shinawi, Amelia Kirby, Katherine Christensen, Lu Wang, Rasim Özgür Rosti, Sohail Aziz Paracha, Muhammad Tahir Sarwar, Dagan Jenkins, Jawad Ahmed, Federico Santoni, Emmanuelle Ranza, Justyna Iwaszkiewicz, Cheryl Cytrynbaum, Rosanna Weksberg, Ingrid M. Wentzensen, María J. Guillen Sacoto, Yue Si, Aida Telegrafi, Marisa V. Andrews, Dustin Baldridge, Heinz Gabriel, Julia Mohr, Barbara Oehl‐Jaschkowitz, Sylvain Debard, Bruno Senger, Frédéric Fischer, Conny van Ravenwaaij, Annemarie Fock, Servi J.C. Stevens, Jürg Bähler, Amina Nasar, John F. Mantovani, Adnan Manzur, Anna Sarkozy, Desirée E.C. Smith, Gajja S. Salomons, Zubair M. Ahmed, S. Riazuddin, Saima Riazuddin, Muhammad A. Usmani, Annette Seibt, Muhammad Ansar, Stylianos E. Antonarakis, John B. Vincent, Muhammad Ayub, Mona Grimmel, Anne Marie Jelsig, Tina Duelund Hjortshøj, Helena Gásdal Karstensen, Marybeth Hummel, Tobias B. Haack, Yalda Jamshidi, Felix Distelmaier, Rita Horváth, Joseph G. Gleeson, H. D. Becker, Jean-Louis Mandel, David A. Koolen, Henry Houlden

    Izdano 2020
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