Výsledky vyhledávání - Laure Raymond

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  1. 1
    Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias

    Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias Autor Sara Morais, Laure Raymond, Mathilde Mairey, Paula Coutinho, Eva Brandão, Paula Carneiro Ribeiro, José L. Loureiro, Jorge Sequeiros, Alexis Brice, Isabel Alonso, Giovanni Stévanin

    Vydáno 2017
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  2. 2
    Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia

    Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia Autor Zine‐Eddine Kherraf, Caroline Cazin, Amine Bouker, Sélima Fourati Ben Mustapha, Sylviane Hennebicq, Amandine Septier, Charles Coutton, Laure Raymond, Marc Nouchy, Nicolas Thierry‐Mieg, Raoudha Zouari, Christophe Arnoult, Pierre F. Ray

    Vydáno 2022
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  3. 3
    Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia

    Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia Autor Jean‐Loup Méreaux, Guillaume Banneau, Mélanie Papin, Giulia Coarelli, Rémi Valter, Laure Raymond, Bophara Kol, Olivier Ariste, Livia Parodi, Laurène Tissier, Mathilde Mairey, Samia Ait Said, Celia Gautier, Marine Guillaud-Bataille, Mathieu Anheim, Jean‐Philippe Azulay, Odile Boesfplug-Tanguy, Perrine Charles, Alexandra Dürr, Cyril Goizet, Didier Hannequin, Vincent Huin, Michel Kœnig, Pierre Labauge, Eric Leguern, Karine Nguyen, Mathilde Renaud, Diana Rodriguez, Christophe Verny, Sylvie Forlani, Pierre de la Grange, Alexis Brice, Giovanni Vazza, Alexandra Dürr, Eric Leguern, Giovanni Stévanin

    Vydáno 2021
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  4. 4
    Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases

    Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases Autor Quentin Testard, Xavier Vanhoye, Kévin Yauy, Marie-Emmanuelle Naud, Gaëlle Vieville, Francis Rousseau, Benjamin Dauriat, Valentine Marquet, Sylvie Bourthoumieu, David Geneviève, Vincent Gâtinois, Constance Wells, Marjolaine Willems, Christine Coubes, Lucile Pinson, Rodolphe Dard, Aude Tessier, Bérenice Herve, François Vialard, Inès Harzallah, Renaud Touraine, Benjamin Cogné, Wallid Deb, Thomas Besnard, Olivier Pichon, Béatrice Laudier, Laurent Mesnard, Alice Doreille, Tiffany Busa, Chantal Missirian, Véronique Satre, Charles Coutton, Tristan Celse, Radu Harbuz, Laure Raymond, Jean-François Taly, Julien Thévenon

    Vydáno 2022
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  5. 5
    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

    Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders Autor Gaia Novarino, Ali G. Fenstermaker, Maha S. Zaki, Matan Hofree, Jennifer L. Silhavy, Andrew Heiberg, Mostafa Abdellateef, Başak Rosti, Eric Scott, Lobna Mansour, Amira Masri, Hülya Kayserili, Jumana Y. Al‐Aama, Ghada M. H. Abdel‐Salam, Ariana Karminejad, Majdi Kara, Bülent Kara, Babak Bozorgmehri, Tawfeg Ben‐Omran, Faezeh Mojahedi, Iman G. Mahmoud, Naïma Bouslam, Ahmed Bouhouche, Ali Benomar, Sylvain Hanein, Laure Raymond, Sylvie Forlani, Massimo Mascaro, Laila Selim, Nabil Shehata, Nasir Al‐Allawi, Parayil Sankaran Bindu, Matloob Azam, Murat Günel, Ahmet Okay Çağlayan, Kaya Bilgüvar, Aslıhan Tolun, Mahmoud Y. Issa, Jana Schroth, Emily Spencer, Rasim Özgür Rosti, Naiara Akizu, Keith K. Vaux, Anide Johansen, Alice A. Koh, Hisham Megahed, Alexandra Dürr, Alexis Brice, Giovanni Stévanin, Stacy Gabriel, Trey Ideker, Joseph G. Gleeson

    Vydáno 2014
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  6. 6
    An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease

    An intermediate-effect size variant in <i>UMOD</i> confers risk for chronic kidney disease Autor Eric Olinger, Céline Schaeffer, Kendrah Kidd, Elhussein A. Elhassan, Yurong Cheng, Inès Dufour, Guglielmo Schiano, Holly Mabillard, Elena Pasqualetto, Patrick Hofmann, Daniel G. Fuster, Andreas D. Kistler, Ian Wilson, Stanislav Kmoch, Laure Raymond, Thomas Robert, Kai‐Uwe Eckardt, Anthony J. Bleyer, Anna Köttgen, Peter J. Conlon, Michael S. Wiesener, John A. Sayer, Luca Rampoldi, Olivier Devuyst, John C. Ambrose, Paramasivam Arumugam, R. Bevers, Marta Bleda, F. Boardman-Pretty, C. R. Boustred, Helen Brittain, Myles Brown, Mark J. Caulfield, G. C. Chan, Adam Giess, John N. Griffin, Angela Hamblin, Steve Henderson, Tim Hubbard, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, A. Lakey, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Meriel McEntagart, Federico Minneci, J. Mitchell, Loukas Moutsianas, Marcus Mueller, Nirupa Murugaesu, Anna C. Need, Peter O’Donovan, Chris A. Odhams, Christine Patch, D. Perez-Gil, Miguel Basto-Pereira, J. Pullinger, T. Rahim, Álvaro Rendón, T. Rogers, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Samuel C. Smith, Alona Sosinsky, A. Stuckey, M. Tanguy, Ana Lisa Taylor Tavares, Ellen Thomas, Simon R. Thompson, Arianna Tucci, M. J. Welland, Erik A. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki

    Vydáno 2022
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