檢索結果 - Marc D’Hooghe

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  1. 1
    Treatment and long term outcome in West syndrome: The clinical reality. A multicentre follow up study

    Treatment and long term outcome in West syndrome: The clinical reality. A multicentre follow up study 由 Lieven Lagae, Hélène Verhelst, Berten Ceulemans, Linda De Meırleır, Marie‐Cécile Nassogne, V. de Borchgrave, Marc D’Hooghe, Martine Foulon, Patrick Van Bogaert

    出版 2010
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  2. 2
    Steroids in intractable childhood epilepsy: Clinical experience and review of the literature

    Steroids in intractable childhood epilepsy: Clinical experience and review of the literature 由 Helene Verhelst, Paul Boon, Gunnar Buyse, Berten Ceulemans, Marc D’Hooghe, Linda De Meırleır, Danièle Hasaerts, Anna Jansen, Lieven Lagae, Alfred Meurs, Rudy Van Coster, Kristl Vonck

    出版 2005
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  3. 3
    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

    A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy 由 Cas Simons, David A. Dyment, Stephen J. Bent, Joanna Crawford, Marc D’Hooghe, Alfried Kohlschütter, Sunita Venkateswaran, Guy Helman, Bwee Tien Poll‐The, Christine Makowski, Yoko Ito, Kristin D. Kernohan, Taila Hartley, Quinten Waisfisz, Ryan J. Taft, Marjo S. van der Knaap, Nicole I. Wolf

    出版 2017
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  4. 4
    UEFA expert group statement on nutrition in elite football. Current evidence to inform practical recommendations and guide future research

    UEFA expert group statement on nutrition in elite football. Current evidence to inform practical recommendations and guide future research 由 James Collins, Ronald J. Maughan, Michael Gleeson, Johann Bilsborough, Asker E. Jeukendrup, James P. Morton, Stuart M. Phillips, Lawrence E. Armstrong, Louise M. Burke, Graeme L. Close, Rob Duffield, Enette Larson‐Meyer, Julien Louis, Daniel Medina, Flávia Meyer, Ian Rollo, Jorunn Sundgot‐Borgen, Benjamin T. Wall, Beatriz Boullosa, Grégory Dupont, Antonia Lizarraga, Peter Res, Mario Bizzini, Carlo Castagna, Charlotte Cowie, Marc D’Hooghe, Hans Geyer, Tim Meyer, Niki Papadimitriou, Marc Vouillamoz, Alan McCall

    出版 2020
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  5. 5
    Infographic. UEFA expert group 2020 statement on nutrition in elite football

    Infographic. UEFA expert group 2020 statement on nutrition in elite football 由 James Collins, Ronald J. Maughan, Mike Gleeson, Johann Bilsborough, Asker E. Jeukendrup, James P. Morton, Stuart M. Phillips, Lawrence E. Armstrong, Louise M. Burke, Graeme L. Close, Rob Duffield, Enette Larson‐Meyer, Julien Louis, Daniel Medina, Flávia Meyer, Ian Rollo, Jorunn Sundgot‐Borgen, Benjamin T. Wall, Beatriz Boullosa, Grégory Dupont, Antonia Lizarraga, Peter Res, Mario Bizzini, Carlo Castagna, Charlotte Cowie, Marc D’Hooghe, Hans Geyer, Tim Meyer, Niki Papadimitiou, Marc Vouillamoz, Alan McCall

    出版 2020
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  6. 6
    CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

    CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders 由 Francesco Brancati, Giuseppe Barrano, Jennifer L. Silhavy, Sarah Marsh, Lorena Travaglini, Stephanie Bielas, Maria Amorini, Dominika Zablocka, Hülya Kayserili, Lihadh Al‐Gazali, Enrico Bertini, Eugen Boltshauser, Marc D’Hooghe, Elisa Fazzi, Elif Yosunkaya Fenerci, Raoul C. M. Hennekam, Andrea Kiss, Melissa Lees, Elysa Marco, Shubha R. Phadke, Luciana Rigoli, Stéphane Romano, Carmelo Salpietro, Elliott H. Sherr, Sabrina Signorini, Petter Strømme, Bernard Stuart, László Sztriha, David Viskochil, Adnan Yüksel, Bruno Dallapiccola, Enza Maria Valente, Joseph G. Gleeson

    出版 2007
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  7. 7
    Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>

    Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i> 由 Giulia Coarelli, Rebecca Schüle, Bart P.C. van de Warrenburg, Peter De Jonghe, Claire Ewenczyk, Andrea Martinuzzi, Matthis Synofzik, Elisa G. Hamer, Jonathan Baets, Mathieu Anheim, Lüdger Schöls, Tine Deconinck, Pegah Masrori, Bertrand Fontaine, Thomas Klockgether, Maria Grazia D’Angelo, Marie-Lorraine Monin, Jan De Bleecker, Isabelle Migeotte, Perrine Charles, Maria Teresa Bassi, Thomas Klopstock, Fanny Mochel, Elisabeth Ollagnon‐Roman, Marc D’Hooghe, Christoph Kamm, Delia Kurzwelly, Mélanie Papin, Claire‐Sophie Davoine, Guillaume Banneau, Sophie Tézenas du Montcel, Danielle Seilhean, Alexis Brice, Charles Duyckaerts, Giovanni Stévanin, Alexandra Dürr

    出版 2019
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  8. 8
    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

    Phenotype and genotype in 101 males with X-linked creatine transporter deficiency 由 Jiddeke M. van de Kamp, Ofir T. Betsalel, Saadet Mercimek‐Mahmutoglu, Lara Abulhoul, Stephanie Grünewald, Irina Anselm, Hatem Azzouz, Drago Bratkovic, Arjan de Brouwer, Ben C.J. Hamel, Tjitske Kleefstra, Helger G. Yntema, Jaume Campistol, Marta Vilaseca, David Cheillan, Marc D’Hooghe, Luísa Diogo, Paula Garcia, Carla Valongo, Maria José Fonseca, Suzanna G.M. Frints, Bridget Wilcken, Sigrun von der Haar, Hanne Meijers‐Heijboer, Floris C. Hofstede, Diana Johnson, Sarina G. Kant, Laurence Lion‐François, G. Pitelet, Nicola Longo, J A Maat-Kievit, João Monteiro, Arnold Münnich, Ania C. Muntau, Marie‐Cécile Nassogne, Hitoshi Osaka, Katrin Õunap, Jean-Marc Pinard, Susana Quijano‐Roy, I Poggenburg, Nicola Poplawski, Omar Abdul‐Rahman, Antònia Ribes, Ángela Arias, Joy Yaplito‐Lee, Andreas Schulze, Charles E. Schwartz, Susanne Schwenger, G. Soares, Yves Sznajer, Vassili Valayannopoulos, Hilde Van Esch, Stephan Waltz, Mirjam M. C. Wamelink, Petra J. W. Pouwels, Abdellatif Errami, Marjo S. van der Knaap, C. Jakobs, Grazia M.S. Mancini, Gajja S. Salomons

    出版 2013
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  9. 9
    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

    The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies 由 Claire Redin, Harrison Brand, Ryan L. Collins, Tammy Kammin, Elyse Mitchell, Jennelle C. Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M. Seabra, Mary‐Alice Abbott, Omar Abdul‐Rahman, Erika Aberg, Rhett Adley, Sofía Lizeth Alcaráz‐Estrada, Fowzan S. Alkuraya, Yu An, MaryAnne Anderson, Caroline Antolik, Kwame Anyane‐Yeboa, Joan Atkin, Tina M. Bartell, Jonathan A. Bernstein, Elizabeth Beyer, Ian Blumenthal, Ernie M.H.F. Bongers, Eva H. Brilstra, Chester Brown, Hennie T. Brüggenwirth, Bert Callewaert, Colby Chiang, Ken Corning, Helen Cox, Edwin Cuppen, Benjamin Currall, Tom Cushing, D. David, Matthew A. Deardorff, Annelies Dheedene, Marc D’Hooghe, Bert B.A. de Vries, Dawn Earl, Heather Ferguson, Heather Fisher, David Fitzpatrick, Pamela Gerrol, Daniela Giachino, Joseph Glessner, Troy J. Gliem, Margo Grady, Brett H. Graham, Cristin Griffis, Karen W. Gripp, Andrea Gropman, Andrea Hanson‐Kahn, David J. Harris, Mark A. Hayden, R. Sean Hill, Ron Hochstenbach, Jodi D. Hoffman, Robert J. Hopkin, Monika Weisz Hubshman, A. Micheil Innes, Mira Irons, Melita Irving, Jessie C. Jacobsen, Sandra Janssens, Tamison Jewett, John P. Johnson, Marjolijn C.J. Jongmans, Stephen G. Kahler, David A. Koolen, Jerome Korzelius, Peter M. Kroisel, Yves Lacassie, William Lawless, Emmanuelle Lemyre, Kathleen A. Leppig, Alex V. Levin, Haibo Li, Hong Li, Eric C. Liao, Cynthia Lim, Edward J. Lose, Diane Lucente, Michael J. Macera, Poornima Manavalan, Giorgia Mandrile, Carlo Marcelis, Lauren Margolin, Tamara Mason, Diane Masser‐Frye, Michael McClellan, Cinthya J. Zepeda Mendoza, Björn Menten, Sjors Middelkamp, Liya Regina Mikami, Emily Moe, Shehla Mohammed, Tarja Mononen, Megan Mortenson

    出版 2016
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