Resultados da busca - Verena Steinke‐Lange

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  1. 1
    Reclassification of VUS in BRCA1 and BRCA2 using the new “BRCA1/BRCA2 ENIGMA track set” demonstrates the superiority of ClinGen´s ENIGMA Expert Panel Specifications over the standard ACMG/AMP classification system

    Reclassification of VUS in BRCA1 and BRCA2 using the new “BRCA1/BRCA2 ENIGMA track set” demonstrates the superiority of ClinGen´s ENIGMA Expert Panel Specifications over the standa... por Anna Benet‐Pagès, Andreas Laner, Luis R Nassar, Tobias Wohlfrom, Verena Steinke‐Lange, Maximilian Haeussler, Elke Holinski‐Feder

    Publicado em 2025
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  2. 2
    Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients

    Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients por Ariane Hallermayr, Tobias Wohlfrom, Verena Steinke‐Lange, Anna Benet‐Pagès, Florentine Scharf, Ellen Heitzer, Ulrich Mansmann, C. Haberl, Maike de Wit, H. Vogelsang, Markus Rentsch, Elke Holinski‐Feder, Julia M. A. Pickl

    Publicado em 2022
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  3. 3
    Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study

    Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study por Karolin Bucksch, Silke Zachariae, Stefan Aretz, Reinhard Büttner, Elke Holinski‐Feder, Stefanie Holzapfel, Robert Hüneburg, Matthias Kloor, Magnus von Knebel Doeberitz, Monika Morak, Gabriela Möslein, Jacob Nattermann, Claudia Perne, Nils Rahner, Wolff Schmiegel, Karsten Schulmann, Verena Steinke‐Lange, Christian P. Strassburg, Deepak Vangala, Jürgen Weitz, Markus Loeffler, Christoph Engel

    Publicado em 2020
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  4. 4
    The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance

    The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance por Aysel Ahadova, Toni T. Seppälä, Christoph Engel, Richard Gallon, John Burn, Elke Holinski‐Feder, Verena Steinke‐Lange, Gabriela Möslein, Maartje Nielsen, Sanne W. ten Broeke, Luigi Laghi, Mev Dominguez–Valentin, Gabriel Capellà, Finlay Macrae, Rodney J. Scott, Robert Hüneburg, Jacob Nattermann, Michael Hoffmeister, Hermann Brenner, Hendrik Bläker, Magnus von Knebel Doeberitz, Julian R. Sampson, Hans F. A. Vasen, Jukka‐Pekka Mecklin, Pål Møller, Matthias Kloor

    Publicado em 2020
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  5. 5
    No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies

    No Difference in Colorectal Cancer Incidence or Stage at Detection by Colonoscopy Among 3 Countries With Different Lynch Syndrome Surveillance Policies por Christoph Engel, Hans F. A. Vasen, Toni T. Seppälä, Stefan Aretz, Marloes Bigirwamungu-Bargeman, Sybrand Y. de Boer, Karolin Bucksch, Reinhard Büttner, Elke Holinski‐Feder, Stefanie Holzapfel, Robert Hüneburg, Maarten Jacobs, Heikki Järvinen, Matthias Kloor, Magnus von Knebel Doeberitz, Jan J. Koornstra, Mariëtte van Kouwen, Alexandra M. J. Langers, Paul C. van de Meeberg, Monika Morak, Gabriela Möslein, Fokko M. Nagengast, Kirsi Pylvänäinen, Nils Rahner, Laura Renkonen‐Sinisalo, Silvia Sanduleanu, Hans K. Schackert, Wolff Schmiegel, Karsten Schulmann, Verena Steinke‐Lange, Christian P. Strassburg, J. van der Vecht, M. L. Verhulst, Wouter de Vos tot Nederveen Cappel, Silke Zachariae, Jukka‐Pekka Mecklin, Markus Loeffler

    Publicado em 2018
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  6. 6
    Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome

    Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome por Christoph Engel, Aysel Ahadova, Toni T. Seppälä, Stefan Aretz, Marloes Bigirwamungu-Bargeman, Hendrik Bläker, Karolin Bucksch, Reinhard Büttner, Wouter T. de Vos tot Nederveen Cappel, Volker Endris, Elke Holinski‐Feder, Stefanie Holzapfel, Robert Hüneburg, Maarten Jacobs, Jan J. Koornstra, Alexandra M. J. Langers, Anna Lepistö, Monika Morak, Gabriela Möslein, Païvi Peltomäki, Kirsi Pylvänäinen, Nils Rahner, Laura Renkonen‐Sinisalo, Karsten Schulmann, Verena Steinke‐Lange, Albrecht Stenzinger, Christian P. Strassburg, Paul C. van de Meeberg, Mariëtte van Kouwen, Monique E. van Leerdam, Deepak Vangala, J. van der Vecht, Marie–Louise Verhulst, Magnus von Knebel Doeberitz, Jürgen Weitz, Silke Zachariae, Markus Loeffler, Jukka‐Pekka Mecklin, Matthias Kloor, Hans F. A. Vasen

    Publicado em 2020
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  7. 7
    Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

    Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome por Linda A.J. Hendricks, Nicoline Hoogerbrugge, Arjen R. Mensenkamp, Joan Brunet, Roser Lleuger-Pujol, Hildegunn Høberg‐Vetti, Marianne Tveit Haavind, Giovanni Innella, Daniela Turchetti, Stefan Aretz, Isabel Spier, Marc Tischkowitz, Arne Jahn, Thera P. Links, Maran J.W. Olderode-Berends, Ana Blatnik, Edward M. Leter, D. Gareth Evans, Emma R. Woodward, Verena Steinke‐Lange, Violetta Anastasiadou, Chrystelle Colas, Marie‐Charlotte Villy, Patrick R. Benusiglio, А. В. Герасименко, Valeria Barili, Maud Branchaud, Claude Houdayer, Bianca Tesi, Mustafa Ömer Yazıcıoğlu, Rachel S. van der Post, Janneke Schuurs-Hoeijmakers, Liselotte P. van Hest, Muriel A. Adank, Floor A.M. Duijkers, Maartje Nielsen, Katja C J Verbeek, Yvette van Ierland, Jacques C. Giltay, Janet R. Vos, Janet R. Vos

    Publicado em 2022
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  8. 8
    Cancer Risks for <i>PMS2</i>-Associated Lynch Syndrome

    Cancer Risks for <i>PMS2</i>-Associated Lynch Syndrome por Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Stefan Aretz, Inge Bernstein, Daniel D. Buchanan, Albert de la Chapelle, Gabriel Capellà, Mark Clendenning, Christoph Engel, Steven Gallinger, E. Gómez, Jane C. Figueiredo, Robert W. Haile, Heather L. Hampel, Liselotte van Hest, John L. Hopper, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Loı̈c Le Marchand, Tom G.W. Letteboer, Mark A. Jenkins, Annika Lindblom, Noralane M. Lindor, Arjen R. Mensenkamp, Pål Møller, Polly A. Newcomb, Theo A.M. van Os, Rachel Pearlman, Marta Pineda, Nils Rahner, E. Redeker, Maran J.W. Olderode-Berends, Christophe Rosty, Hans K. Schackert, Rodney J. Scott, Leigha Senter, Liesbeth Spruijt, Verena Steinke‐Lange, Manon Suerink, Stephen N. Thibodeau, Yvonne J. Vos, Anja Wagner, Ingrid Winship, Frederik J. Hes, Hans F. A. Vasen, Juul Wijnen, Maartje Nielsen, Aung Ko Win

    Publicado em 2018
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  9. 9
    Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report

    Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report por Toni T. Seppälä, Aysel Ahadova, Mev Dominguez–Valentin, Finlay Macrae, D. Gareth Evans, Christina Therkildsen, Julian R. Sampson, Rodney J. Scott, John Burn, Gabriela Möslein, Inge Bernstein, Elke Holinski‐Feder, Kirsi Pylvänäinen, Laura Renkonen‐Sinisalo, Anna Lepistö, Charlotte Kvist Lautrup, Annika Lindblom, John‐Paul Plazzer, Ingrid Winship, Douglas Tjandra, Lior H. Katz, Stefan Aretz, Robert Hüneburg, Stefanie Holzapfel, Karl Heinimann, Adriana Della Valle, Florencia Neffa, Nathan Gluck, Wouter H. de Vos tot Nederveen Cappel, Hans F. A. Vasen, Monika Morak, Verena Steinke‐Lange, Christoph Engel, Nils Rahner, Wolff Schmiegel, Deepak Vangala, Huw Thomas, Kate Green, Fiona Lalloo, Emma J. Crosbie, James Hill, Gabriel Capellà, Marta Pineda, Matilde Navarro, Ignacio Blanco, Sanne W. ten Broeke, Maartje Nielsen, Ken Ljungmann, Sigve Nakken, Noralane M. Lindor, Ian M. Frayling, Eivind Hovig, Lone Sunde, Matthias Kloor, Jukka‐Pekka Mecklin, Mette Kalager, Pål Møller

    Publicado em 2019
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  10. 10
    Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome

    Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome por Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, Tanya M. Bisseling, Virginie Bubien, F. Caux, Nathalie Chabbert‐Buffet, Chrystelle Colas, Sophie Da Mota Gomes, Martin Gotthardt, Nicoline Hoogerbrugge, Marleen Kets, Katherine Lachlan, Thera P. Links, Michel Longy, Ritse M. Mann, Sjaak Pouwels, Leo J. Schultze Kool, Robert K. Semple, Ian Stock, Marc Tischkowitz, Janet R. Vos, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Rianne Oostenbrink, Rolf H. Sijmons, D. Gareth Evans, Emma R. Woodward, Marc Tischkowitz, Eamonn R. Maher, Rosalie E. Ferner, Stefan Aretz, Isabel Spier, Verena Steinke‐Lange, Elke Holinski‐Feder, Evelin Schröck, Thierry Frébourg, Claude Houdayer, Chrystelle Colas, P. Wolkenstein, Vincent Bours, Eric Legius, Bruce Poppe, Kathleen Claes, Robin De Putter, Ignacio Blanco, Gabriel Capellà, Joan Brunet, Conxi Lázaro, Judith Balmañà, Héctor Salvador, Carla Oliveíra, Manuel R. Teixeira, Svetlana Lagercrantz, Emma Tham, Jan Lubiński, Karolina Ertmańska, Béla Melegh, Mateja Krajc, Ana Blatnik, Sirkku Peltonen, Marja Hietala

    Publicado em 2020
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  11. 11
    Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

    Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation por Scott R. Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A. Avery, Jaishri O. Blakeley, Dusica Babovic‐Vuksanovic, Rosalie E. Ferner, Michael J. Fisher, Jan M. Friedman, Marco Giovannini, David H. Gutmann, C. Oliver Hanemann, Michel Kalamarides, Hildegard Kehrer‐Sawatzki, Bruce R. Korf, Victor‐Felix Mautner, Mia MacCollin, Laura Papi, Katherine A. Rauen, Vincent M. Riccardi, Elizabeth K. Schorry, Miriam J. Smith, Anat Stemmer‐Rachamimov, David A. Stevenson, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Susan Huson, P. Wolkenstein, D. Gareth Evans, Monique Anten, Arthur S. Aylsworth, Diana Baralle, S. Barbarot, Fred G. Barker, Shay Ben‐Shachar, Amanda Bergner, D. Bessis, Ignacio Blanco, Cathérine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Alicia Gomes, Dorothy Halliday, Chris Hammond Helen Hanson Arvid Heiberg, K.H. Ly, Justin T. Jordan, Matthias A. Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Q. Le, Michael P. Link, Robert Listernick, Conor Mallucci, Vanessa L. Merker, Christopher L. Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger J. Packer, Allyson Parry, Juha Peltonen, Dominique C. Pichard, Bruce Poppe, Nilton Alves de Rezende, Luiz Oswaldo Carneiro Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke‐Lange, Stavros Stivaros, Amy Taylor, Jaan Toelen, James H. Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh

    Publicado em 2022
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  12. 12
    Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

    Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database por Mev Dominguez–Valentin, Julian R. Sampson, Toni T. Seppälä, Sanne W. ten Broeke, John‐Paul Plazzer, Sigve Nakken, Christoph Engel, Stefan Aretz, Mark A. Jenkins, Lone Sunde, Inge Bernstein, Gabriel Capellà, Francesc Balaguer, Huw Thomas, D. Gareth Evans, John Burn, Marc S. Greenblatt, Eivind Hovig, Wouter H. de Vos tot Nederveen Cappel, Rolf H. Sijmons, Lucio Bertario, Maria Grazia Tibiletti, Giulia Martina Cavestro, Annika Lindblom, Adriana Della Valle, Francisco López‐Köstner, Nathan Gluck, Lior H. Katz, Karl Heinimann, Carlos Vaccaro, Reinhard Büttner, Heike Görgens, Elke Holinski‐Feder, Monika Morak, Stefanie Holzapfel, Robert Hüneburg, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Hans K. Schackert, Verena Steinke‐Lange, Wolff Schmiegel, Deepak Vangala, Kirsi Pylvänäinen, Laura Renkonen‐Sinisalo, John L. Hopper, Aung Ko Win, Robert W. Haile, Noralane M. Lindor, Steven Gallinger, Loı̈c Le Marchand, Polly A. Newcomb, Jane C. Figueiredo, Stephen N. Thibodeau, Karin Wadt, Christina Therkildsen, Henrik Okkels, Zohreh Ketabi, Leticia Moreira, Ariadna Sánchez, Miquel Serra‐Burriel, Marta Pineda, Matilde Navarro, Ignacio Blanco, Kate Green, Fiona Lalloo, Emma J. Crosbie, James Hill, Oliver G. Denton, Ian M. Frayling, Einar Andreas Rødland, Hans F. A. Vasen, Miriam Mints, Florencia Neffa, Patricia Esperón, Karin Álvarez, Revital Kariv, Guy Rosner, Tamara Alejandra Piñero, María Laura González, Pablo Kalfayan, Douglas Tjandra, Ingrid Winship, Finlay Macrae, Gabriela Möslein, Jukka‐Pekka Mecklin, Maartje Nielsen, Pål Møller

    Publicado em 2019
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  13. 13
    Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

    Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation por Eric Legius, Ludwine Messiaen, P. Wolkenstein, Patrice Pancza, Robert A. Avery, Yemima Berman, Jaishri O. Blakeley, Dusica Babovic‐Vuksanovic, Karin Soares Cunha, Rosalie E. Ferner, Michael J. Fisher, Jan M. Friedman, David H. Gutmann, Hildegard Kehrer‐Sawatzki, Bruce R. Korf, Victor‐Felix Mautner, Sirkku Peltonen, Katherine A. Rauen, Vincent M. Riccardi, Elizabeth K. Schorry, Anat Stemmer‐Rachamimov, David A. Stevenson, Gianluca Tadini, Nicole J. Ullrich, David Viskochil, Katharina Wimmer, Kaleb Yohay, Alicia Gomes, Justin T. Jordan, Victor Mautner, Vanessa L. Merker, Miriam J. Smith, David A. Stevenson, Monique Anten, Arthur S. Aylsworth, Diana Baralle, S. Barbarot, Fred G. Barker, Shay Ben‐Shachar, Amanda Bergner, D. Bessis, Ignacio Blanco, Cathérine Cassiman, Patricia Ciavarelli, Maurizio Clementi, Thierry Frébourg, Marco Giovannini, Dorothy Halliday, Chris Hammond, C. Oliver Hanemann, Helen Hanson, Arvid Heiberg, K.H. Ly, Michel Kalamarides, Matthias A. Karajannis, Daniela Kroshinsky, Margarita Larralde, Conxi Lázaro, Lu Q. Le, Michael P. Link, Robert Listernick, Mia MacCollin, Conor Mallucci, Christopher L. Moertel, Amy Mueller, Joanne Ngeow, Rianne Oostenbrink, Roger J. Packer, Laura Papi, Allyson Parry, Juha Peltonen, Dominique C. Pichard, Bruce Poppe, Nilton Alves de Rezende, Luiz Oswaldo Carneiro Rodrigues, Tena Rosser, Martino Ruggieri, Eduard Serra, Verena Steinke‐Lange, Stavros Stivaros, Amy Taylor, Jaan Toelen, James H. Tonsgard, Eva Trevisson, Meena Upadhyaya, Ali Varan, Meredith Wilson, Hao Wu, Gelareh Zadeh, Susan Huson, D. Gareth Evans, Scott R. Plotkin

    Publicado em 2021
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  14. 14
    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

    Solving patients with rare diseases through programmatic reanalysis of genome-phenome data por 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

    Publicado em 2021
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  15. 15
    Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

    Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospec... por Mev Dominguez–Valentin, Saskia Haupt, Toni T. Seppälä, Julian R. Sampson, Lone Sunde, Inge Bernstein, Mark A. Jenkins, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capellà, Francesc Balaguer, D. Gareth Evans, John Burn, Elke Holinski‐Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John‐Paul Plazzer, Rolf H. Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Tadeusz Dębniak, Robert Fruscio, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Lior H. Katz, Ido Laish, E Vainer, Carlos Vaccaro, Dirce Maria Carraro, Kevin Monahan, Elizabeth Half, Áine Stakelum, D. C. Winter, Rory Kennelly, Nathan Gluck, Harsh Sheth, Naim Abu‐Freha, Marc S. Greenblatt, Bernard Rossi, Mábel Bohórquez, Giulia Martina Cavestro, Leonardo S. Lino‐Silva, Karoline Horisberger, Maria Grazia Tibiletti, Ivana do Nascimento, Huw Thomas, Norma Rossi, Leandro Apolinário da Silva, Attila Zaránd, Juan Ruiz‐Bañobre, Vincent Heuveline, Jukka‐Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen‐Sinisalo, Anna Lepistö, Païvi Peltomäki, Christina Therkildsen, Mia Gebauer Madsen, Stefan Kobbelgaard Burgdorf, John L. Hopper, Aung Ko Win, Robert W. Haile, Noralane M. Lindor, Steven Gallinger, Loı̈c Le Marchand, Polly A. Newcomb, Jane C. Figueiredo, Daniel D. Buchanan, Stephen N. Thibodeau, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Evelin Schröck, Verena Steinke‐Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hüneburg, Silke Redler, Reinhard Büttner, Jürgen Weitz, Marta Pineda, Núria Dueñas, Joan Brunet, Leticia Moreira, Ariadna Sánchez, Eivind Hovig, Sigve Nakken, Kate Green, Fiona Lalloo, James Hill, Emma J. Crosbie, Miriam Mints, Yael Goldberg

    Publicado em 2023
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  16. 16
    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

    Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses por Steven Laurie, Iris te Paske, Nienke van Os, Kiran Polavarapu, Nika Schuermans, Anna Sommer, German Demidov, Kornelia Ellwanger, Marcos Fernandez-Callejo, Coline Thomas, Stefan Aretz, Jonathan Baets, Elisa Benetti, Gemma Bullich, Patrick F. Chinnery, Jordi Díaz‐Manera, Enzo Cohen, Daniel Daniš, Jean‐Madeleine de Sainte Agathe, Anne‐Sophie Denommé‐Pichon, Jordi Díaz‐Manera, Stéphanie Efthymiou, Laurence Faivre, Marcos Fernandez-Callejo, Mallory Freeberg, José Garcia‐Pelaez, Léna Guillot‐Noël, Tobias B. Haack, Michael G. Hanna, Holger Hengel, Rita Horváth, Henry Houlden, Adam Jackson, Lennart Johansson, Anna Marcé‐Grau, Erik-Jan Kamsteeg, Melanie Kellner, Elke de Boer, Didier Lacombe, Hanns Lochmüller, Estrella López‐Martín, Alfons Macaya, Anna Marcé‐Grau, Aleš Maver, Mary Reilly, Francesco Muntoni, Francesco Musacchia, Gisèle Bonne, Vincenzo Nigro, Catarina Olimpio, Carla Oliveíra, Jaroslava Paulasová Schwabová, Martje G. Pauly, Borut Peterlin, Sophia Peters, Rolph Pfundt, Giulio Piluso, Davide Piscia, Manuel Posada, Selina Reich, Alessandra Renieri, Lukáš Ryba, Karolis Šablauskas, Marco Savarese, Lüdger Schöls, Leon Schütz, Verena Steinke‐Lange, Giovanni Stévanin, Volker Straub, Marc Sturm, Morris A. Swertz, Marco Tartaglia, Iris te Paske, Rachel Thompson, Annalaura Torella, Christina Trainor, Bjarne Udd, Liedewei Van de Vondel, Bart van de Warrenburg, Jeroen van Reeuwijk, Jana Vandrovcová, Antonio Vitobello, Janet R. Vos, Emílie Vyhnálková, Robin Wijngaard, Carlo Wilke, Doreen William, Jishu Xu, Burcu Yaldız, Luca Zalatnai, Birte Zurek, Richarda M. de Voer, Iris te Paske, Nienke van Os, Jean‐Madeleine de Sainte Agathe, Liedewei Van de Vondel, Bart van de Warrenburg, Lisenka E.L.M. Vissers, Anthony J. Brookes, Teresinha Evangelista

    Publicado em 2025
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  17. 17
    Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

    Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium por Pål Møller, Toni T. Seppälä, James G. Dowty, Saskia Haupt, Mev Dominguez–Valentin, Lone Sunde, Inge Bernstein, Christoph Engel, Stefan Aretz, Maartje Nielsen, Gabriel Capellà, D. Gareth Evans, John Burn, Elke Holinski‐Feder, Lucio Bertario, Bernardo Bonanni, Annika Lindblom, Zohar Levi, Finlay Macrae, Ingrid Winship, John‐Paul Plazzer, Rolf H. Sijmons, Luigi Laghi, Adriana Della Valle, Karl Heinimann, Elizabeth Half, Francisco Lopez-Koestner, Karin Alvarez-Valenzuela, Rodney J. Scott, Lior H. Katz, Ido Laish, E Vainer, Carlos Vaccaro, Dirce Maria Carraro, Nathan Gluck, Naim Abu‐Freha, Áine Stakelum, Rory Kennelly, D. C. Winter, Bernard Rossi, Marc S. Greenblatt, Mábel Bohórquez, Harsh Sheth, Maria Grazia Tibiletti, Leonardo S. Lino‐Silva, Karoline Horisberger, Carmen Portenkirchner, Ivana do Nascimento, Norma Rossi, Leandro Apolinário da Silva, Huw Thomas, Attila Zaránd, Jukka‐Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen‐Sinisalo, Anna Lepistö, Païvi Peltomäki, Christina Therkildsen, Lars Joachim Lindberg, Ole Thorlacius‐Ussing, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Verena Steinke‐Lange, Wolff Schmiegel, Deepak Vangala, Claudia Perne, Robert Hüneburg, Aı́da Falcón de Vargas, Andrew Latchford, Anne‐Marie Gerdes, A Bäckman, Carmen Guillén‐Ponce, Carrie Snyder, Charlotte Kvist Lautrup, David J. Amor, Edenir Inêz Palmero, Elena M. Stoffel, Floor A.M. Duijkers, Michael J. Hall, Heather Hampel, Heinric Williams, Henrik Okkels, Jan Lubiński, Jeanette C. Reece, Joanne Ngeow, José G. Guillem, Julie Arnold, Karin Wadt, Kevin Monahan, Leigha Senter, Lene Juel Rasmussen, Liselotte P. van Hest, Luigi Ricciardiello, Maija Kohonen‐Corish, Marjolijn J. L. Ligtenberg, Melissa C. Southey, Melyssa Aronson, Mohd Nizam Zahary, N. Jewel Samadder

    Publicado em 2022
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