Kết quả tìm kiếm - Jean‐Hubert Caberg

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  1. 1
    The cross-talk between dendritic and regulatory T cells: good or evil?

    The cross-talk between dendritic and regulatory T cells: good or evil? Bằng Pascale Hubert, Nathalie Jacobs, Jean-Hubert Caberg, Jacques Boniver, Philippe Delvenne

    Được phát hành 2007
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  2. 2
    Newborn screening for SMA in Southern Belgium

    Newborn screening for SMA in Southern Belgium Bằng François Boemer, Jean‐Hubert Caberg, Vinciane Dideberg, Domien Dardenne, Vincent Bours, Mickaël Hiligsmann, Tamara Dangouloff, Laurent Servais

    Được phát hành 2019
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  3. 3
    Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1

    Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1 Bằng Imen Dorboz, Marie Coutelier, A. Bertrand, Jean‐Hubert Caberg, Monique Elmaleh, Jeanne Lainé, Giovanni Stévanin, Gisèle Bonne, Odile Boespflug‐Tanguy, Laurent Servais

    Được phát hành 2014
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  4. 4
    Mutation of the iron‐sulfur cluster assembly gene <i>IBA57</i> causes fatal infantile leukodystrophy

    Mutation of the iron‐sulfur cluster assembly gene <i>IBA57</i> causes fatal infantile leukodystrophy Bằng François‐Guillaume Debray, Claudia Stümpfig, Arnaud Vanlander, Vinciane Dideberg, Claire Josse, Jean‐Hubert Caberg, François Boemer, Vincent Bours, René Stevens, Sara Seneca, Joél Smet, Roland Lill, Rudy Van Coster

    Được phát hành 2015
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  5. 5
    Transcriptome-wide analysis of natural antisense transcripts shows their potential role in breast cancer

    Transcriptome-wide analysis of natural antisense transcripts shows their potential role in breast cancer Bằng Stéphane Wenric, Sonia ElGuendi, Jean‐Hubert Caberg, Warda Bezzaou, Corinne Fasquelle, Benoît Charloteaux, Latifa Karim, Benoît Hennuy, Pierre Frères, Joëlle Collignon, Meriem Boukerroucha, Hélène Schroeder, Fabrice Olivier, Véronique Jossa, Guy Jérusalem, Claire Josse, Vincent Bours

    Được phát hành 2017
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  6. 6
    GHRH excess and blockade in X-LAG syndrome

    GHRH excess and blockade in X-LAG syndrome Bằng Adrian Daly, Philippe A. Lysy, Céline Desfilles, Liliya Rostomyan, Amira Mohamed, Jean-Hubert Caberg, Véronique Raverot, Emilie Castermans, Étienne Marbaix, Dominique Maiter, Chloé Brunelle, Giampaolo Trivellin, Constantine A. Stratakis, Vincent Bours, Christian Raftopoulos, Véronique Beauloye, Anne Barlier, Albert Beckers

    Được phát hành 2015
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  7. 7
    Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

    Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium Bằng François Boemer, Jean‐Hubert Caberg, Pablo Beckers, Vinciane Dideberg, Samantha di Fiore, Vincent Bours, Sandrine Marie, Joseph P. Dewulf, Lionel Marcélis, Nicolas Deconinck, Aurore Daron, Laura Campello Blasco, Eduardo F. Tizzano, Mickaël Hiligsmann, Jacques Lombet, Tatiana Pereira, Lucia Lopez-Granados, Sarvnaz Shalchian-Tehran, Véronique van Assche, Arabelle Willems, Sofie Huybrechts, Bénédicte Mast, Rudolf van Olden, Tamara Dangouloff, Laurent Servais

    Được phát hành 2021
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  8. 8
    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice Bằng Aia Elise Jønch, Élise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, R. Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurélie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne‐Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke S. Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch‐Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont

    Được phát hành 2019
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  9. 9
    Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects

    Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects Bằng Adrian Daly, Bo Yuan, Frédéric Fina, Jean‐Hubert Caberg, Giampaolo Trivellin, Liliya Rostomyan, Wouter W. de Herder, Luciana Ansaneli Naves, Daniel L. Metzger, Thomas Cuny, Wolfgang Rabl, Nalini S. Shah, Marie‐Lise Jaffrain‐Rea, Maria Chiara Zatelli, Fábio R. Faucz, Emilie Castermans, Isabelle Nanni‐Metellus, Maya Lodish, Ammar Muhammad, Léonor Palmeira, Iulia Potorac, Giovanna Mantovani, Sebastian J C M M Neggers, Marc Klein, Anne Barlier, Pengfei Liu, L’Houcine Ouafik, Vincent Bours, James R. Lupski, Constantine A. Stratakis, Albert Beckers

    Được phát hành 2016
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  10. 10
    X-linked acrogigantism syndrome: clinical profile and therapeutic responses

    X-linked acrogigantism syndrome: clinical profile and therapeutic responses Bằng Albert Beckers, Maya Lodish, Giampaolo Trivellin, Liliya Rostomyan, Misu Lee, Fábio R. Faucz, Bo Yuan, Catherine S. Choong, Jean-Hubert Caberg, Elisa Verrua, Luciana Ansaneli Naves, Tim Cheetham, Jacques Young, Philippe A. Lysy, Patrick Pétrossians, Andrew Cotterill, Nalini S. Shah, Daniel L. Metzger, Emilie Castermans, Maria Rosaria Ambrosio, Chiara Villa, Natalia Strebkova, Nadezhda Mazerkina, S. Gaillard, Gustavo Barcelos Barra, Luis Augusto Casulari, Sebastian Neggers, Roberto Salvatori, Marie‐Lise Jaffrain‐Rea, Margaret Zacharin, Beatriz Santamaría, Sabina Zacharieva, Ee Mun Lim, Giovanna Mantovani, Maria Chiara Zatelli, Michael T. Collins, Jean‐François Bonneville, Martha Quezado, Prashant Chittiboina, Edward H. Oldfield, Vincent Bours, Pengfei Liu, Wouter W. de Herder, Natalia S. Pellegata, James R. Lupski, Adrian Daly, Constantine A. Stratakis

    Được phát hành 2015
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  11. 11
    Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients

    Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients Bằng Liliya Rostomyan, Adrian Daly, Patrick Pétrossians, E. Nachev, Anurag Lila, Anne-Lise Lecoq, Beatriz Lecumberri, Giampaolo Trivellin, Roberto Salvatori, Andreas Moraitis, I. M. Holdaway, Dianne J Kranenburg - van Klaveren, Maria Chiara Zatelli, Nuria Palacios, Cécile Nozières, Margaret Zacharin, Tapani Ebeling, Marja Ojaniemi, Liudmila Rozhinskaya, Elisa Verrua, Marie‐Lise Jaffrain‐Rea, S. Filipponi, Daria Gusakova, Vyacheslav Pronin, Jérôme Bertherat, Zhanna Belaya, Irena Ilovayskaya, Mona Sahnoun-Fathallah, Caroline Sievers, Günter K. Stalla, Emilie Castermans, Jean-Hubert Caberg, Ekaterina Sorkina, Renata S. Auriemma, Sachin Mittal, Maria Kareva, Philippe A. Lysy, Philippe Émy, Ernesto De Menis, Catherine S. Choong, Giovanna Mantovani, Vincent Bours, Wouter de Herder, Thierry Brue, Anne Barlier, Sebastian Neggers, Sabina Zacharieva, Philippe Chanson, Nalini S. Shah, Constantine A. Stratakis, Luciana Ansaneli Naves, Albert Beckers

    Được phát hành 2015
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  12. 12
    Gigantism and Acromegaly Due to Xq26 Microduplications and <i>GPR101</i> Mutation

    Gigantism and Acromegaly Due to Xq26 Microduplications and <i>GPR101</i> Mutation Bằng Giampaolo Trivellin, Adrian Daly, Fábio R. Faucz, Bo Yuan, Liliya Rostomyan, Darwin O. Larco, Marie Helene Schernthaner-Reiter, Eva Szarek, Letícia Ferro Leal, Jean‐Hubert Caberg, Emilie Castermans, Chiara Villa, Aggeliki Dimopoulos, Prashant Chittiboina, Paraskevi Xekouki, Nalini S. Shah, Daniel L. Metzger, Philippe A. Lysy, Emanuele Ferrante, Natalia Strebkova, Nadezhda Mazerkina, Maria Chiara Zatelli, Maya Lodish, Anélia Horvath, Rodrigo Bertollo de Alexandre, Allison Manning, Isaac Lévy, Margaret F. Keil, Maria De La Luz Sierra, Léonor Palmeira, Wouter Coppieters, Michel Georges, Luciana Ansaneli Naves, Mauricette Jamar, Vincent Bours, T. John Wu, Catherine S. Choong, Jérôme Bertherat, Philippe Chanson, Peter Kamenický, William E. Farrell, Anne Barlier, Martha Quezado, Ivana Bjelobaba, Stanko S. Stojilković, Jürgen Wess, Stefano Costanzi, Pengfei Liu, James R. Lupski, Albert Beckers, Constantine A. Stratakis

    Được phát hành 2014
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  13. 13
    Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

    Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Bằng Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Männik, Arjun Krishnan, M. Elizabeth McCready, Olivier Pichon, Cédric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Currò, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina, Marco Fichera, Luana Mandarà, Marie Vincent, Mathilde Nizon, Sandra Mercier, Claire Bénéteau, Sophie Blesson, Dominique Martin–Coignard, Anne-Laure Mosca-Boidron, Jean-Hubert Caberg, Maja Bućan, Susan Zeesman, Małgorzata J.M. Nowaczyk, Mathilde Lefebvre, Laurence Faivre, Patrick Callier, Cindy Skinner, Boris Keren, Perrine Charles, Paolo Prontera, Nathalie Marle, Alessandra Renieri, Alexandre Reymond, R. Frank Kooy, Bertrand Isidor, Charles E. Schwartz, Corrado Romano, Erik A. Sistermans, David J. Amor, Joris Andrieux, Santhosh Girirajan

    Được phát hành 2018
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  14. 14
    Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

    Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study Bằng Sandra Martin-Brevet, Borja Rodríguez‐Herreros, Jared A. Nielsen, Clara Moreau, Claudia Modenato, Anne Maillard, Aurélie Pain, Sonia Richetin, Aia Elise Jønch, Abid Qureshi, Nicole R. Zürcher, Philippe Conus, Wendy K. Chung, Elliott H. Sherr, John E. Spiro, Ferath Kherif, J. Beckmann, Nouchine Hadjikhani, Alexandre Reymond, Randy L. Buckner, Bogdan Draganski, Sébastien Jacquemont, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean‐Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban

    Được phát hành 2018
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  15. 15
    Effects of eight neuropsychiatric copy number variants on human brain structure

    Effects of eight neuropsychiatric copy number variants on human brain structure Bằng Claudia Modenato, Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm, Martineau Jean‐Louis, Charles-Olivier Martin, Nadine Younis, Petra Tamer, Élise Douard, Fanny Thébault‐Dagher, Valérie Côté, Audrey-Rose Charlebois, Florence Deguire, Anne Maillard, Borja Rodríguez‐Herreros, Aurélie Pain, Sonia Richetin, Marie‐Claude Addor, Joris Andrieux, Benoı̂t Arveiler, Geneviève Baujat, Frédérique Sloan‐Béna, Marco Belfiore, Dominique Bonneau, Sonia Bouquillon, Odile Boute, Alfredo Brusco, Tiffany Busa, Jean- Hubert Caberg, Dominique Campion, Vanessa Colombert, Marie‐Pierre Cordier, Albert David, François‐Guillaume Debray, Marie‐Ange Delrue, Martine Doco‐Fenzy, Ulrike Dunkhase‐Heinl, Patrick Edery, Christina Fagerberg, Laurence Faivre, Francesca Forzano, David Geneviève, Marion Gérard, Daniela Giachino, Agnès Guichet, Olivier Guillin, Delphine Héron, Bertrand Isidor, Aurélia Jacquette, Sylvie Jaillard, Hubert Journel, Boris Keren, Didier Lacombe, Sébastien Lebon, Cédric Le Caignec, M. Lemaître, James Lespinasse, Michèle Mathieu-Dramart, Sandra Mercier, Cyril Mignot, Chantal Missirian, Florence Petit, Kristina P. Sørensen, Lucile Pinson, Ghislaine Plessis, Fabienne Prieur, Alexandre Raymond, Caroline Rooryck, Massimiliano Rossi, Damien Sanlaville, Britta Schlott Kristiansen, Caroline Schluth–Bolard, Marianne Till, Mieke M. van Haelst, Lionel Van Maldergem, Hanalore Alupay, Benjamin Aaronson, Sean Ackerman, Katy Ankenman, Ayesha Anwar, Constance Atwell, Alexandra Bowe, Arthur L. Beaudet, Marta Benedetti, Jessica Berg, Jeffrey Berman, Leandra N. Berry, Audrey Bibb, Lisa Blaskey, Jonathan Brennan, Christie M. Brewton, Randy L. Buckner, Polina Bukshpun, Jordan Burko, Phil Cali, Bettina M. Cerban, Yi-Shin Chang, Maxwell Cheong

    Được phát hành 2021
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