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481.
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482.
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Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations. [electronic resource] by
- Morini, Jacopo
- Nacci, Lucia
- Babini, Gabriele
- Cesaro, Simone
- Valli, Roberto
- Ottolenghi, Andrea
- Nicolis, Elena
- Pintani, Emily
- Maserati, Emanuela
- Cipolli, Marco
- Danesino, Cesare
- Scotti, Claudia
- Minelli, Antonella
Producer: 20200504
In:
British journal of haematology vol. 185
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483.
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486.
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487.
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Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy. [electronic resource] by
- Ikeda, Kensuke
- Mori-Yoshimura, Madoka
- Yamamoto, Toshiyuki
- Sonoo, Masahiro
- Suzuki, Shigeaki
- Kondo, Yoshiyuki
- Nakamura, Harumasa
- Mitsuhashi, Kana
- Maeda, Meiko Hashimoto
- Shimizu, Jun
- Hayashi, Yukiko K
- Nishino, Ichizo
- Oya, Yasushi
- Murata, Miho
Producer: 20170313
In:
Journal of clinical neuromuscular disease vol. 17
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488.
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489.
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Heterogeneous clinical spectrum of anti-SRP myositis and importance of the methods of detection of anti-SRP autoantibodies: a multicentric study. [electronic resource] by
- Picard, Cécile
- Vincent, Thierry
- Lega, Jean-Christophe
- Hue, Sophie
- Fortenfant, Françoise
- Lakomy, Daniela
- Humbel, René-Louis
- Goetz, Joelle
- Molinari, Nicolas
- Bardin, Nathalie
- Bertin, Daniel
- Johanet, Catherine
- Chretien, Pascale
- Dubucquoi, Sylvain
- Streichenberger, Nathalie
- Desplat-Jégo, Sophie
- Bossuyt, Xavier
- Sibilia, Jean
- Abreu, Isabelle
- Chevailler, Alain
- Fabien, Nicole
Producer: 20171211
In:
Immunologic research vol. 64
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490.
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496.
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Cryo-EM structure of the ribosome-SecYE complex in the membrane environment. [electronic resource] by
- Frauenfeld, Jens
- Gumbart, James
- Sluis, Eli O van der
- Funes, Soledad
- Gartmann, Marco
- Beatrix, Birgitta
- Mielke, Thorsten
- Berninghausen, Otto
- Becker, Thomas
- Schulten, Klaus
- Beckmann, Roland
Producer: 20110708
In:
Nature structural & molecular biology vol. 18
Availability: No items available.
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500.
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