Search Results - Acrich, Karina

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  1. 1
    Analysis of urinary cathepsin C for diagnosing Papillon–Lefèvre syndrome

    Analysis of urinary cathepsin C for diagnosing Papillon–Lefèvre syndrome by Hamon, Yveline, Legowska, Monika, Fergelot, Patricia, Dallet‐Choisy, Sandrine, Newell, Louise, Vanderlynden, Lise, Kord Valeshabad, Ali, Acrich, Karina, Kord, Hadi, Charalampos, Tsamakis, Morice‐Picard, Fanny, Surplice, Ian, Zoidakis, Jerome, David, Karen, Vlahou, Antonia, Ragunatha, Shivanna, Nagy, Nikoletta, Farkas, Katalin, Széll, Márta, Goizet, Cyril, Schacher, Beate, Battino, Maurizio, Al Farraj Aldosari, Abdullah, Wang, Xinwen, Liu, Yang, Marchand‐Adam, Sylvain, Lesner, Adam, Kara, Elodie, Korkmaz‐Icöz, Sevil, Moss, Celia, Eickholz, Peter, Taieb, Alain, Kavukcu, Salih, Jenne, Dieter E, Gauthier, Francis, Korkmaz, Brice

    Published in The FEBS journal
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    Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

    Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies by Wentzensen, Ingrid M, Johnston, Jennifer J, Keppler-Noreuil, Kim, Acrich, Karina, David, Karen, Johnson, Kisha D, Graham, John M, Sapp, Julie C, Biesecker, Leslie G

    Published in Human genome variation
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