檢索結果 - Holger Cario

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  1. 1
    Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

    Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations 由 Carlos Camps, Nayia Petousi, Celeste Bento, Holger Cario, Richard R. Copley, Mary Frances McMullin, Richard van Wijk, Peter J. Ratcliffe, Peter A. Robbins, Jenny C. Taylor

    出版 2016
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  2. 2
    JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms

    JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms 由 Amy V. Jones, Andrew Chase, Richard T. Silver, David Oscier, Katerina Zoi, Y. Lynn Wang, Holger Cario, Heike L. Pahl, Andrew Collins, Andreas Reiter, Francis Grand, Nicholas C.P. Cross

    出版 2009
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  3. 3
    Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

    Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease 由 Holger Cario, Desirée E.C. Smith, Henk J. Blom, Nenad Blau, Harald Bode, Karlheinz Holzmann, Ulrich Pannicke, Karl‐Peter Hopfner, Eva-Maria Rump, Zuleya Ayric, E. Kohne, Klaus‐Michael Debatin, Yvo M. Smulders, Klaus Schwarz

    出版 2011
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  4. 4
    Pediatric reference intervals for alkaline phosphatase

    Pediatric reference intervals for alkaline phosphatase 由 Jakob Zierk, Farhad Arzideh, Rainer Haeckel, Holger Cario, Michael C. Frühwald, Hans‐Jürgen Groß, Thomas Gscheidmeier, Reinhard Hoffmann, Alexander Krebs, Ralf Lichtinghagen, Michael Neumann, Hans-Georg Ruf, Udo Steigerwald, Thomas Streichert, Wolfgang Rascher, Markus Metzler, Manfred Rauh

    出版 2016
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  5. 5
    Potential clinical implications of<i>BRAF</i>mutations in histiocytic proliferations

    Potential clinical implications of<i>BRAF</i>mutations in histiocytic proliferations 由 Anna-Maria Bubolz, Stephanie E. Weissinger, Albrecht Stenzinger, Annette Arndt, Konrad Steinestel, Silke Brüderlein, Holger Cario, Anneli Lubatschofski, Claudia Welke, Ioannis Anagnostopoulos, Thomas F.E. Barth, Ambros J. Beer, Peter M√oller, M. H. Gottstein, Andreas Viardot, Jochen K. Lennerz

    出版 2014
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  6. 6
    Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin

    Bone marrow failure unresponsive to bone marrow transplant is caused by mutations in thrombopoietin 由 Aaron Seo, Miri Ben‐Harosh, Mehtap Sirin, Jerry Stein, Orly Dgany, Joseph Kaplelushnik, Manfred Hoenig, Ulrich Pannicke, Myriam Ricarda Lorenz, Klaus Schwarz, Clemens Stockklausner, Tom Walsh, Süleyman Gülsüner, Ming K. Lee, Anoop K. Sendamarai, Marilyn Sánchez-Bonilla, Mary‐Claire King, Holger Cario, Andreas E. Kulozik, Klaus‐Michael Debatin, Ansgar Schulz, Hannah Tamary, Akiko Shimamura

    出版 2017
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  7. 7
    Relative response of patients with myelodysplastic syndromes and other transfusion‐dependent anaemias to deferasirox (ICL670): a 1‐yr prospective study

    Relative response of patients with myelodysplastic syndromes and other transfusion‐dependent anaemias to deferasirox (ICL670): a 1‐yr prospective study 由 John B. Porter, Renzo Galanello, Giuseppe Saglio, Ellis J. Neufeld, Elliott Vichinsky, Maria Domenica Cappellini, Nancy F. Olivieri, Antonio Piga, Melody J. Cunningham, Denis Soulières, Norbert Gattermann, G Tchernia, Johan Maertens, Patricia J. Giardina, Janet L. Kwiatkowski, Giovanni Quarta, Michael Jeng, Gian Luca Forni, Michael Stadler, Holger Cario, Louisette Debusscher, Matteo Giovanni Della Porta, Mario Cazzola, Peter L. Greenberg, Giuliana Alimena, B. Rabault, Insa Gathmann, J. Ford, Daniele Alberti, Christian Rosé

    出版 2007
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  8. 8
    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

    Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease 由 Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J.L. Knight, Sophie Gad, Sophie Couvé, Franck Chesnel, Mathilde Pacault, Pierre Lindenbaum, Sylvie Job, Solenne Dumont, Thomas Besnard, Marine Cornec, Hélène Dreau, Melissa M. Pentony, Erika Kvikstad, Sophie Deveaux, Nelly Burnichon, Sophie Ferlicot, Mathias Vilaine, Jean‐Michaël Mazzella, Fabrice Airaud, Céline Garrec, Laurence Heidet, Sabine Irtan, Elpis Mantadakis, Karim Bouchireb, Klaus‐Michael Debatin, Richard Redon, Stéphane Bézieau, Brigitte Bressac–de Paillerets, Bin Tean Teh, François Girodon, Maria-Luigia Randi, Maria Caterina Putti, Vincent Bours, Richard van Wijk, Joachim R. Göthert, Antonis Kattamis, Nicolas Janin, Celeste Bento, Jenny C. Taylor, Yannick Arlot‐Bonnemains, Richard J. Kahnoski, Anne‐Paule Gimenez‐Roqueplo, Holger Cario, Betty Gardie

    出版 2018
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  9. 9
    Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases

    Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases 由 Celeste Bento, Melanie J. Percy, Betty Gardie, Tabita Maia, Richard van Wijk, Silverio Perrotta, Fulvio Della Ragione, Helena Almeida, Cédric Rossi, François Girodon, Maria Åström, Drorit Neumann, Susanne Schnittger, Britta Landin, Milen Minkov, Maria Luigia Randi, Richard J. Kahnoski, Nicole Casadevall, William Vainchenker, Susana Rives, Sylvie Hermouet, Letícia Ribeiro, Mary Frances McMullin, Holger Cario, Aurélie Chauveau, Anne‐Paule Gimenez‐Roqueplo, Brigitte Bressac–de Paillerets, Didem Altındirek, Felipe R. Lorenzo, Frédéric Lambert, Harlev Dan, Sophie Gad, Ana Catarina Oliveira, Cédric Rossi, Cristina Fraga, Gennadiy Taradin, Guillermo Martín–Núñez, Helena Vitória, Herrera Diaz Aguado, Jan Palmblad, Julia Vidán, Luís Relvas, Letícia Ribeiro, Maria Luigi Larocca, Maria Luigia Randi, Maria Pedro Silveira, Melanie J. Percy, Mor Gross, Ricardo Marques da Costa, Soheir Beshara, Tal Ben‐Ami, Valérie Ugo

    出版 2013
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  10. 10
    Erythrocytosis associated with a novel missense mutation in the BPGM gene

    Erythrocytosis associated with a novel missense mutation in the BPGM gene 由 Nayia Petousi, Richard R. Copley, Terence R.J. Lappin, S.E. Haggan, Celeste Bento, Holger Cario, Melanie J. Percy, Peter J. Ratcliffe, Peter A. Robbins, M. F. McMullin, Peter Donnelly, John I. Bell, D. R. Bentley, Gil McVean, Peter J. Ratcliffe, Jenny C. Taylor, Andrew O.M. Wilkie, P. Donelly, John Broxholme, David Buck, Jean‐Baptiste Cazier, Richard J. Cornall, Lynn Gregory, Julian C. Knight, Gerton Lunter, Gil McVean, Ian Tomlinson, Andrew O.M. Wilkie, David Buck, Christopher Allan, Moustafa Attar, Andrew Green, Lynn Gregory, Sean Humphray, Zoya Kingsbury, Sarah Lamble, Lorne Lonie, Alistair T. Pagnamenta, Paolo Piazza, Guadelupe Polanco, Amy Trebes, Gil McVean, Peter Donnelly, Jean‐Baptiste Cazier, John Broxholme, Richard R. Copley, Simon Fiddy, Russell Grocock, Edouard Hatton, Chris Holmes, L. Hughes, Peter Humburg, Alexander Kanapin, Stefano Lise, Gerton Lunter, Hilary C. Martin, Lisa Murray, Davis J. McCarthy, Andy Rimmer, Natasha Sahgal, Bruce Wright, Christopher Yau

    出版 2014
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  11. 11
    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders 由 Jenny C. Taylor, Hilary C. Martin, Stefano Lise, John Broxholme, Jean‐Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan, A.R. Aricescu, Moustafa Attar, Christian Babbs, Jennifer Becq, David Beeson, Celeste Bento, P Bignell, Edward Blair, Veronica J. Buckle, Katherine R. Bull, Ondřej Cais, Holger Cario, Helen Chapel, Richard R. Copley, Richard J. Cornall, Jude Craft, Karin Dahan, Emma E. Davenport, Calliope A. Dendrou, Olivier Devuyst, Aimée L Fenwick, Jonathan Flint, Lars Fugger, Rodney D. Gilbert, Anne Goriely, Angie Green, Ingo H. Greger, Russell Grocock, Anja V. Gruszczyk, Robert Hastings, Edouard Hatton, Douglas R. Higgs, Adrian V. S. Hill, Chris Holmes, Malcolm F. Howard, Linda Hughes, Peter Humburg, David H. Johnson, Fredrik Karpe, Zoya Kingsbury, Usha Kini, Julian C. Knight, Jonathan Krohn, Sarah Lamble, Craig B. Langman, Lorne Lonie, Joshua Luck, Davis J. McCarthy, Simon J. McGowan, Mary Frances McMullin, Kerry A. Miller, Lisa Murray, Andrea H. Németh, M. Andrew Nesbit, David Nutt, Elizabeth Ormondroyd, Annette Oturai, Alistair T. Pagnamenta, Smita Y. Patel, Melanie J. Percy, Nayia Petousi, Paolo Piazza, Siân E. Piret, Guadalupe Polanco‐Echeverry, Niko Popitsch, Fiona Powrie, Christopher W. Pugh, Lynn Quek, Peter A. Robbins, Kathryn Robson, Alexandra Russo, Natasha Sahgal, Pauline A. van Schouwenburg, Anna Schuh, Earl D. Silverman, Alison Simmons, Per Soelberg Sørensen, Elizabeth Sweeney, John Taylor, Rajesh V. Thakker, Ian Tomlinson, Amy Trebes, Stephen R.F. Twigg, Holm H. Uhlig, Paresh Vyas, Tim J. Vyse, Steven A. Wall, Hugh Watkins, Michael P. Whyte, Lorna Witty

    出版 2015
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  12. 12
    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

    Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases 由 Alistair T. Pagnamenta, Carlos Camps, Edoardo Giacopuzzi, John Taylor, Mona Hashim, Eduardo Calpena, Pamela J. Kaisaki, Akiko Hashimoto, Jing Yu, Edward Sanders, Ron Schweßinger, Jim R. Hughes, Gerton Lunter, Hélène Dreau, Matteo P. Ferla, Lukas Lange, Yeşim Kesim, Vassilis Ragoussis, Dimitrios V. Vavoulis, Holger Allroggen, Olaf Ansorge, Christian Babbs, Siddharth Banka, Benito Banos‐Pinero, David Beeson, Tal Ben‐Ami, David 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, Dong Yin, James E. Dunford, Renzo Guerrini, Adrian L. Harris, Jane Hartley, Georg A. Holländer, M K Javaid, Maureen A. Kane, Déirdre Kelly, Dominic F. Kelly, Samantha J.L. Knight, Alexandra Y. Kreins, Erika Kvikstad, Craig B. Langman, Tracy Lester, Kate E Lines, Simon Lord, Xin Lü, Sahar Mansour, Adnan Manzur, Reza Maroofian, Brian D. Marsden, Joanne Mason, Simon J. McGowan, Davide Mei, Hana Mlčochová, Yoshiko Murakami, Andrea H. Németh, Steven Okoli, Elizabeth Ormondroyd, Lilian Bomme Ousager, Jacqueline Palace, Smita Y. Patel, Melissa M. Pentony, Christopher W. Pugh, Abolfazl 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 A. Wall, Jing Wang, Hugh Watkins, Jaroslav Žák, Anna Schuh, Usha Kini, Andrew O.M. Wilkie, Niko Popitsch, Jenny C. Taylor

    出版 2023
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