Search Results - Tort, Frederic

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


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    International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and management by Altassan, Ruqaiah (Author) , Radenkovic, Silvia (Author) , Edmondson, Andrew C. (Author) , Barone, Rita (Author) , Brasil, Sandra (Author) , Cechova, Anna (Author) , Coman, David (Author) , Donoghue, Sarah (Author) , Falkenstein, Kristina (Author) , Ferreira, Vanessa (Author) , Ferreira, Carlos (Author) , Fiumara, Agata (Author) , Francisco, Rita (Author) , Freeze, Hudson (Author) , Grunewald, Stephanie (Author) , Honzik, Tomas (Author) , Jaeken, Jaak (Author) , Krasnewich, Donna (Author) , Lam, Christina (Author) , Lee, Joy (Author) , Lefeber, Dirk (Author) , Marques-da-Silva, Dorinda (Author) , Pascoal, Carlota (Author) , Quelhas, Dulce (Author) , Raymond, Kimiyo M. (Author) , Rymen, Daisy (Author) , Seroczynska, Malgorzata (Author) , Serrano, Mercedes (Author) , Sykut-Cegielska, Jolanta (Author) , Thiel, Christian (Author) , Tort, Frederic (Author) , Vals, Mari-Anne (Author) , Videira, Paula (Author) , Voermans, Nicol (Author) , Witters, Peter (Author) , Morava, Eva (Author) ,


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