نتائج البحث - Frederic Tort

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  1. 1
    ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with increasing numbers of chromosomal imbalances

    ATM gene inactivation in mantle cell lymphoma mainly occurs by truncating mutations and missense mutations involving the phosphatidylinositol-3 kinase domain and is associated with... حسب Emma Camacho, Luís Hernández, Sílvia Hernández, Frederic Tort, Beatríz Bellosillo, Sı́lvia Beà, Francesc Bosch, Emili Montserrat, Antonio Cardesa, Pedro L. Fernández, Elı́as Campo

    منشور في 2002
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    Artigo
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  2. 2
    Molecular Characterization of a New ALK Translocation Involving Moesin (MSN-ALK) in Anaplastic Large Cell Lymphoma

    Molecular Characterization of a New ALK Translocation Involving Moesin (MSN-ALK) in Anaplastic Large Cell Lymphoma حسب Frederic Tort, Magda Pinyol, Karen Pulford, Giovanna Roncador, Luís Hernández, Iracema Nayach, Hanneke C. Kluin‐Nelemans, Philip M. Kluin, Christian Touriol, Georges Delsol, David Y. Mason, Elı́as Campo

    منشور في 2001
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    Artigo
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  3. 3
    CHK2-decreased protein expression and infrequent genetic alterations mainly occur in aggressive types of non-Hodgkin lymphomas

    CHK2-decreased protein expression and infrequent genetic alterations mainly occur in aggressive types of non-Hodgkin lymphomas حسب Frederic Tort, Sílvia Hernández, Sı́lvia Beà, Antonio Martı́nez, Manel Esteller, James G. Herman, Xavier Puig, Emma Camacho, Montse Sánchez, Iracema Nayach, Armando López‐Guillermo, Pedro L. Fernández, Dolors Colomer, Luís Hernández, Elı́as Campo

    منشور في 2002
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  4. 4
    Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

    Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes حسب Frederic Tort, Xènia Ferrer-Cortés, Marta Thió, Aleix Navarro‐Sastre, Leslie Matalonga, Ester Quintana, Núria Bujan, Ángela Arias, Judit García‐Villoria, Cécile Acquaviva, Christine Vianey‐Saban, Rafael Artuch, Àngels García‐Cazorla, Paz Briones, Antònia Ribes

    منشور في 2013
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  5. 5
    Mutations in<i>TRAPPC11</i>are associated with a congenital disorder of glycosylation

    Mutations in<i>TRAPPC11</i>are associated with a congenital disorder of glycosylation حسب Leslie Matalonga, Miren Bravo, Carla Serra‐Peinado, Elisabeth García-Pelegrí, Olatz Ugarteburu, Silvia M. Vidal, Maria Llambrich, Ester Quintana, Pedro Fuster-Jorge, Maria Nieves Gonzalez-Bravo, Sergi Beltrán, Joaquı́n Dopazo, Francisco García‐García, François Foulquier, Gert Matthijs, Philippa B. Mills, Antònia Ribes, Gustavo Egea, Paz Briones, Frederic Tort, M. Girós

    منشور في 2016
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  6. 6
    International consensus guidelines for phosphoglucomutase 1 deficiency (<scp>PGM1‐CDG</scp>): Diagnosis, follow‐up, and management

    International consensus guidelines for phosphoglucomutase 1 deficiency (<scp>PGM1‐CDG</scp>): Diagnosis, follow‐up, and management حسب Ruqaiah Altassan, Silvia Radenkovic, Andrew C. Edmondson, Rita Barone, Sandra Brasil, Anna Čechová, David Coman, Sarah Donoghue, Kristina Falkenstein, Vanessa dos Reis Ferreira, Carlos R. Ferreira, Agata Fiumara, Rita Francisco, Hudson H. Freeze, Stephanie Grünewald, Tomáš Honzík, Jaak Jaeken, Donna M. Krasnewich, Christina Lam, Joy Lee, Dirk J. Lefeber, Dorinda Marques‐da‐Silva, Carlota Pascoal, Dulce Quelhas, Kimiyo Raymond, Daisy Rymen, Małgorzata Seroczyńska, Mercedes Serrano, Jolanta Sykut‐Cegielska, Christian Thiel, Frederic Tort, Mari‐Anne Vals, Paula A. Videira, Nicol C. Voermans, Peter Witters, Éva Morava

    منشور في 2020
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    Revisão
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  7. 7
    Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations

    Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations حسب Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Charlotte L. Alston, Nicolai Kohlschmidt, Gina O’Grady, Leigh B. Waddell, Frances J. Evesson, Sandra B. T. Cooper, Christian Turner, Jennifer Duff, Ana Töpf, Dèlia Yubero, Cristina Jou, A. Nascimento, C. Ortez, Àngels García‐Cazorla, Claudia Groß, María del Mar O’Callaghan, Saikat Santra, M A Preece, Michael Champion, Sergei Korenev, Efsthatia Chronopoulou, Anirban Majumdar, Germaine Pierre, Daniel McArthur, Kyle Thompson, Plácido Navas, Antònia Ribes, Frederic Tort, Agatha Schlüter, Aurora Pujol, Raquel Montero, Geòrgia Sarquella-Brugada, Hanns Lochmüller, C. Jimenez‐Mallebrera, Robert W. Taylor, Rafael Artuch, Janbernd Kirschner, Sarah C. Grünert, Andreas Roos, Rita Horváth

    منشور في 2019
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    Artigo
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  8. 8
    Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Clinical implementation of RNA sequencing for Mendelian disease diagnostics حسب Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska‐Abramczuk, Antònia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

    منشور في 2022
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