Search Results - Pichurin, Pavel

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    A reverse genetics and genomics approach to gene paralog function and disease: myokymia and the juxtaparanode by Marafi, Dana (Author) , Kozar, Nina (Author) , Duan, Ruizhi (Author) , Bradley, Stephen (Author) , Yokochi, Kenji (Author) , Al Mutairi, Fuad (Author) , Saadi, Nebal Waill (Author) , Whalen, Sandra (Author) , Brunet, Theresa (Author) , Kotzaeridou, Urania (Author) , Choukair, Daniela (Author) , Keren, Boris (Author) , Nava, Caroline (Author) , Kato, Mitsuhiro (Author) , Arai, Hiroshi (Author) , Froukh, Tawfiq (Author) , Faqeih, Eissa Ali (Author) , AlAsmari, Ali M. (Author) , Saleh, Mohammed M. (Author) , Pinto e Vairo, Filippo (Author) , Pichurin, Pavel N. (Author) , Klee, Eric W. (Author) , Schmitz, Christopher T. (Author) , Grochowski, Christopher M. (Author) , Mitani, Tadahiro (Author) , Herman, Isabella (Author) , Calame, Daniel G. (Author) , Fatih, Jawid M. (Author) , Du, Haowei (Author) , Coban-Akdemir, Zeynep (Author) , Pehlivan, Davut (Author) , Jhangiani, Shalini N. (Author) , Gibbs, Richard A. (Author) , Miyatake, Satoko (Author) , Matsumoto, Naomichi (Author) , Wagstaff, Laura J. (Author) , Posey, Jennifer E. (Author) , Lupski, James R. (Author) , Meijer, Dies (Author) , Wagner, Matias (Author) ,


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  2. 2

    Mutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease by Cannata Serio, Magda (Author) , Graham, Laurie A. (Author) , Ashikov, Angel (Author) , Larsen, Lars Elmann (Author) , Raymond, Kimiyo (Author) , Timal, Sharita (Author) , Meur, Gwenn Le (Author) , Ryan, Margret (Author) , Czarnowska, Elzbieta (Author) , Jansen, Jos C. (Author) , He, Miao (Author) , Ficicioglu, Can (Author) , Pichurin, Pavel (Author) , Hasadsri, Linda (Author) , Minassian, Berge (Author) , Rugierri, Alessandra (Author) , Kalimo, Hannu (Author) , Ríos‐Ocampo, W. Alfredo (Author) , Gilissen, Christian (Author) , Rodenburg, Richard (Author) , Jonker, Johan W. (Author) , Holleboom, Adriaan G. (Author) , Morava, Eva (Author) , Veltman, Joris A. (Author) , Socha, Piotr (Author) , Stevens, Tom H. (Author) , Simons, Matias (Author) , Lefeber, Dirk J. (Author) ,


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