Results
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541.
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542.
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543.
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Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy. [electronic resource] by
- Dai, Yi
- Liang, Shengran
- Dong, Xue
- Zhao, Yanhuan
- Ren, Haitao
- Guan, Yuzhou
- Yin, Haifang
- Li, Chen
- Chen, Lin
- Cui, Liying
- Banerjee, Santasree
Producer: 20200618
In:
Journal of cellular and molecular medicine vol. 23
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544.
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545.
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546.
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A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. [electronic resource] by
- Marelli, Cecilia
- Canafoglia, Laura
- Zibordi, Federica
- Ciano, Claudia
- Visani, Elisa
- Zorzi, Giovanna
- Garavaglia, Barbara
- Barzaghi, Chiara
- Albanese, Alberto
- Soliveri, Paola
- Leone, Massimo
- Panzica, Ferruccio
- Scaioli, Vidmer
- Pincherle, Alessandro
- Nardocci, Nardo
- Franceschetti, Silvana
Producer: 20090408
In:
Movement disorders : official journal of the Movement Disorder Society vol. 23
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547.
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548.
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549.
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550.
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Revised spectrum of mutations in sarcoglycanopathies. [electronic resource] by
- Trabelsi, Madiha
- Kavian, Niloufar
- Daoud, Fatma
- Commere, Virginie
- Deburgrave, Nathalie
- Beugnet, Caroline
- Llense, Stephane
- Barbot, Jean Claude
- Vasson, Aurélie
- Kaplan, Jean Claude
- Leturcq, France
- Chelly, Jamel
Producer: 20080916
In:
European journal of human genetics : EJHG vol. 16
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551.
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552.
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553.
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554.
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555.
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Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. [electronic resource] by
- Wakayama, Yoshihiro
- Inoue, Masahiko
- Kojima, Hiroko
- Yamashita, Sumimasa
- Shibuya, Seiji
- Jimi, Takahiro
- Hara, Hajime
- Matsuzaki, Yoko
- Oniki, Hiroaki
- Kanagawa, Motoi
- Kobayashi, Kazuhiro
- Toda, Tatsushi
Producer: 20081230
In:
Histology and histopathology vol. 23
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556.
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557.
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558.
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559.
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Role of major and brain-specific Sgce isoforms in the pathogenesis of myoclonus-dystonia syndrome. [electronic resource] by
- Xiao, Jianfeng
- Vemula, Satya R
- Xue, Yi
- Khan, Mohammad M
- Carlisle, Francesca A
- Waite, Adrian J
- Blake, Derek J
- Dragatsis, Ioannis
- Zhao, Yu
- LeDoux, Mark S
Producer: 20180227
In:
Neurobiology of disease vol. 98
Availability: No items available.
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560.
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