檢索結果 - Martin Schwarz

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  1. 1
    A Prospective Controlled Assessment of Microneedling with the Dermaroller Device

    A Prospective Controlled Assessment of Microneedling with the Dermaroller Device 由 Martin Schwarz, H. Laaff

    出版 2011
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  2. 2
    Active cascade testing for carriers of cystic fibrosis gene

    Active cascade testing for carriers of cystic fibrosis gene 由 M Super, Martin Schwarz, Geraldine Malone, Theresa L. Roberts, A. Haworth, Gordana Dermody

    出版 1994
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  3. 3
    Mutational activation of the c-Ha-ras gene in liver tumors of different rodent strains: correlation with susceptibility to hepatocarcinogenesis.

    Mutational activation of the c-Ha-ras gene in liver tumors of different rodent strains: correlation with susceptibility to hepatocarcinogenesis. 由 Albrecht Buchmann, R. Bauer-Hofmann, Johanna Mahr, Norman R. Drinkwater, A. Luz, Martin Schwarz

    出版 1991
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  4. 4
    Venous thromboembolism and survival in patients with high-grade glioma

    Venous thromboembolism and survival in patients with high-grade glioma 由 Ralph Simanek, Rainer Vormittag, Marco Hassler, Karl Roessler, Martin Schwarz, Christoph Zielinski, Ingrid Pabinger, Christine Marosi

    出版 2007
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  5. 5
    Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU)

    Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU) 由 Éva Simon, Martin Schwarz, J Roos, Nico Dragano, Max Geraedts, Johannés Siegrist, Gudrun Kamp, U. Wendel

    出版 2008
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  6. 6
    Mutations of the Cystic Fibrosis Gene in Patients with Chronic Pancreatitis

    Mutations of the Cystic Fibrosis Gene in Patients with Chronic Pancreatitis 由 NICHOLAS H. SHARER, Martin Schwarz, Geraldine Malone, Andrea Howarth, John Painter, Maurice Super, Joan M. Braganza

    出版 1998
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  7. 7
    A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis

    A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis 由 Sarah Mayell, À. Munck, J.V. Craig, Isabelle Sermet‐Gaudelus, K. Brownlee, Martin Schwarz, Carlo Castellani, Kevin W Southern

    出版 2008
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  8. 8
    Pathophysiological correlates of increased serum tumor necrosis factor in patients with congestive heart failure. Relation to nitric oxide-dependent vasodilation in the forearm circulation.

    Pathophysiological correlates of increased serum tumor necrosis factor in patients with congestive heart failure. Relation to nitric oxide-dependent vasodilation in the forearm cir... 由 Stuart D. Katz, Raghavendra Rao, Joan W. Berman, Martin Schwarz, Laura A. Demopoulos, Rachel Bijou, Thierry H. LeJemtel

    出版 1994
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  9. 9
    Significance of left-sided heart disease for the detection of patent foramen ovale by transesophageal contrast echocardiography

    Significance of left-sided heart disease for the detection of patent foramen ovale by transesophageal contrast echocardiography 由 Peter Siostrzonek, Wilfried Lang, M. Zangeneh, Heinz Gössinger, A Stümpflen, Georg Rosenmayr, Gottfried Heinz, Martin Schwarz, K. Zeiler, H Mösslacher

    出版 1992
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  10. 10
    Stimulating Myocardial Regeneration with Periostin Peptide in Large Mammals Improves Function Post-Myocardial Infarction but Increases Myocardial Fibrosis

    Stimulating Myocardial Regeneration with Periostin Peptide in Large Mammals Improves Function Post-Myocardial Infarction but Increases Myocardial Fibrosis 由 Dennis Ladage, Elisa Yaniz‐Galende, Kleopatra Rapti, Kiyotake Ishikawa, Lisa Tilemann, Scott Shapiro, Yoshiaki Takewa, Jochen Müller‐Ehmsen, Martin Schwarz, Mario J. García, Javier Sanz, Roger J. Hajjar, Yoshiaki Kawase

    出版 2013
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  11. 11
    Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

    Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations 由 Elisabeth Dequeker, Manfred Stuhrmann, Michael A. Morris, Teresa Casals, Carlo Castellani, Mireille Claustres, Harry Cuppens, Marie des Georges, Claude Férec, Milan Maçek, Pierfranco Pignatti, Hans Scheffer, Marianne Schwartz, Michał Witt, Martin Schwarz, Emmanuelle Girodon

    出版 2008
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  12. 12
    Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

    Benchmarks for Cystic Fibrosis carrier screening: A European consensus document 由 Carlo Castellani, Milan Maçek, Jean‐Jacques Cassiman, Alistair Duff, John Massie, Leo P. ten Kate, David Barton, Garry R. Cutting, Bruno Dallapiccola, Elisabeth Dequeker, Emmanuelle Girodon, Wayne W. Grody, Edward W. Highsmith, Helenal Kääriäinen, Stephan Kruip, Michael A. Morris, Pier Franco Pignatti, Ulrike Pypops, Martin Schwarz, Maria Soller, Manfred Stuhrman, Harry Cuppens

    出版 2010
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  13. 13
    Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign

    Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign 由 Joshua D. Groman, Timothy Hefferon, Teresa Casals, L. Bassas, Xavier Estivill, Marie des Georges, Caroline Guittard, Monika Koudová, M. Daniele Fallin, Krisztína Németh, György Fekete, L Kádasi, K.J. Friedman, Martin Schwarz, Cristina Bombieri, Pier Franco Pignatti, Emmanuel Kanavakis, Maria Tzetis, Marianne Schwartz, Giuseppe Novelli, Maria Rosaria D’Apice, Agnieszka Sobczyńska‐Tomaszewska, Jerzy Bal, Manfred Stuhrmann, Milan Maçek, Mireille Claustres, Garry R. Cutting

    出版 2004
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  14. 14
    Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

    Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice 由 Carlo Castellani, Harry Cuppens, Milan Maçek, J.-J. Cassiman, Eitan Kerem, Peter R. Durie, Elizabeth Tullis, B.M. Assael, C. Bombieri, Anthony Brown, Teresa Casals, Mireille Claustres, Garry R. Cutting, Elisabeth Dequeker, J.A. Dodge, Iolo Doull, Philip M. Farrell, Claude Férec, Emmanuelle Girodon, Magnus Johannesson, Batsheva Kerem, Michael R. Knowles, À. Munck, Pier Franco Pignatti, Dragica Radojković, Paolo Rizzotti, Martin Schwarz, Manfred Stuhrmann, Maria Tzetis, Julian Zielenski, J.S. Elborn

    出版 2008
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    Revisão
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  15. 15
    Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease

    Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease 由 Abul Kalam Azad, R. D. Rauh, F. Vermeulen, Martine Jaspers, Judit Korbmacher, Brigitte Boissier, Laurence Bassinet, Yann Fichou, Marie des Georges, Frauke Stanke, K. De Boeck, Lieven Dupont, Miroslava Balaščáková, Lena Hjelte, Patrick Lebecque, Dragica Radojković, Carlo Castellani, Marianne Schwartz, Manfred Stuhrmann, Martin Schwarz, V. Skalická, Isabelle de Monestrol, Emmanuelle Girodon, Claude Férec, Mireille Claustres, Burkhard Tà ⁄ mmler, Jean‐Jacques Cassiman, Christoph Korbmacher, Harry Cuppens

    出版 2009
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  16. 16
    Recommendations for the classification of diseases as CFTR-related disorders

    Recommendations for the classification of diseases as CFTR-related disorders 由 Cristina Bombieri, Mireille Claustres, K. De Boeck, N. Derichs, J.A. Dodge, Emmanuelle Girodon, Isabelle Sermet‐Gaudelus, Martin Schwarz, Maria Tzetis, Michael Wilschanski, Corinne Bareil, Diana Bilton, Carlo Castellani, Harry Cuppens, G.R. Cutting, Pavel Dřevı́nek, Philip M. Farrell, J.S. Elborn, Keith Jarvi, Batsheva Kerem, Eitan Kerem, Michael R. Knowles, Milan Maçek, À. Munck, Dragica Radojković, Manuela Seia, DN Sheppard, K.W. Southern, Manfred Stuhrmann, Elizabeth Tullis, Julian Zielenski, П. Ф. Пигнатти, Claude Férec

    出版 2011
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  17. 17
    Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NGS validation study

    Standardized next-generation sequencing of immunoglobulin and T-cell receptor gene recombinations for MRD marker identification in acute lymphoblastic leukaemia; a EuroClonality-NG... 由 Monika Brüggemann, Michaela Kotrová, Henrik Knecht, Jack Bartram, Myriam Boudjogrha, Vojtěch Bystrý, Grazia Fazio, Eva Froňková, Mathieu Giraud, Andrea Grioni, Jeremy Hancock, Dietrich Herrmann, Cristina Jiménez, Adam Krejčí, John Moppett, Tomáš Reigl, Mikaël Salson, Blanca Scheijen, Martin Schwarz, Simona Songia, Michael Svatoň, Jacques J. M. van Dongen, Patrick Villarèse, Stephanie Wakeman, Gary Wright, Giovanni Cazzaniga, Frédéric Davi, Ramón García‐Sánz, David Gonzalez, Patricia J.T.A. Groenen, Michael Hummel, Elizabeth Macintyre, Κώστας Σταματόπουλος, Christiane Pott, Jan Trka, Nikos Darzentas, Anton W. Langerak

    出版 2019
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  18. 18
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 由 Leslie Matalonga, Carles Hernández-Ferrer, Davide Piscia, Enzo Cohen, Isabel Cuesta, Daniel Danis, Anne‐Sophie Denommé‐Pichon, Yannis Duffourd, Christian Gilissen, Mridul Johari, Steven Laurie, Shuang Li, Leslie Matalonga, Isabelle Nelson, Sophia Peters, Ida Paramonov, Prasanth Sivakumar, Peter N. Robinson, Karolis Sablauskas, Marco Savarese, Wouter Steyaert, Joeri K. van der Velde, Antonio Vitobello, Rebecca Schüle, Matthis Synofzik, Ana Töpf, Lisenka E.L.M. Vissers, Richarda de Voer, Stefan Aretz, Gabriel Capellà, Richarda M. de Voer, D. Gareth Evans, José Garcia‐Pelaez, Elke Holinski‐Feder, Nicoline Hoogerbrugge, Andreas Laner, Carla Oliveíra, Andreas Rump, Evelin Schröck, Anna Katharina Sommer, Verena Steinke‐Lange, Iris te Paske, Marc Tischkowitz, Laura Valle, Siddharth Banka, Elisa Benetti, Giorgio Casari, Andrea Ciolfi, Jill Clayton‐Smith, Bruno Dallapiccola, Elke de Boer, Anne‐Sophie Denommé‐Pichon, Kornelia Ellwanger, Laurence Faivre, Holm Graessner, Tobias B. Haack, Anna Hammarsjö, Markéta Havlovičová, Alexander Hoischen, Anne Hugon, Adam Jackson, Tjitske Kleefstra, Anna Lindstrand, Estrella López‐Martín, Milan Macek, Manuela Morleo, Vicenzo Nigro, Ann Nordgren, Maria Pettersson, Annalaura Torella, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukáš Ryba, Martin Schwarz, Marco Tartaglia, Christel Thauvin, Annalaura Torella, Aurélien Trimouille, Alain Verloès, Lisenka E.L.M. Vissers, Antonio Vitobello, Pavel Votýpka, Klea Vyshka, Birte Zurek, Jonathan Baets, Danique Beijer, Gisèle Bonne, Enzo Cohen, Judith Cossins, Teresinha Evangelista, Alessandra Ferlini, Peter Hackman, Michael G. Hanna, Rita Horváth, Henry Houlden, Mridul Johari, Jarred Lau

    出版 2021
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  19. 19
    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

    Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 由 Dong Li, Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch, Gijs van Haaften, Leslie Granger, Andrea Petersen, Luis A. Pérez‐Jurado, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hančárová, Šárka Bendová, Martin Schwarz, Radka Kremlíková Pourová, Zdeněk Sedláček, Beth Keena, Michael March, Cuiping Hou, Nora O’Connor, Elizabeth Bhoj, Margaret Harr, Gabrielle Lemire, Kym M. Boycott, Meghan C. Towne, Megan Li, Mark A. Tarnopolsky, Lauren Brady, Michael Parker, Hanna Faghfoury, Lea Kristin Parsley, Emanuele Agolini, Maria Lisa Dentici, Antonio Novelli, Meredith S. Wright, Rachel Palmquist, Khanh Lai, Marcello Scala, Pasquale Striano, Michele Iacomino, Federico Zara, Annina H. Cooper, Timothy J. Maarup, Melissa Byler, Robert Roger Lebel, Tuğçe B. Balcı, Raymond J. Louie, Michael J. Lyons, Jessica Douglas, C. Nowak, Alexandra Afenjar, Juliane Hoyer, Boris Keren, Saskia M. Maas, M. Mahdi Motazacker, Julián A. Martínez-Agosto, Ahna M. Rabani, Elizabeth M. McCormick, Marni J. Falk, Sarah M. Ruggiero, Ingo Helbig, Rikke S. Møller, Lino Tessarollo, Francesco Tomassoni‐Ardori, Mary Ellen Palko, Tzung‐Chien Hsieh, Peter Krawitz, Mythily Ganapathi, Bruce D. Gelb, Vaidehi Jobanputra, Ashley Wilson, John M. Greally, Sébastien Jacquemont, Khadijé Jizi, Ange‐Line Bruel, Chloé Quēlin, Vinod K. Misra, Erika Chick, Corrado Romano, Donatella Greco, Alessia Arena, Manuela Morleo, Vincenzo Nigro, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Ryoji Taira, Katsuya Tashiro, Yasunari Sakai, Gökhan Yigit, Bernd Wollnik, Michael Wagner, Barbara Kutsche, Anna Hurst, Michelle L. Thompson, Ryan Schmidt, Linda M. Randolph, Rebecca C. Spillmann, Vandana Shashi

    出版 2023
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