Results
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5301.
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5302.
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5303.
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5304.
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5305.
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A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects. [electronic resource] by
- Ricketts, Thomas
- McGoldrick, Philip
- Fratta, Pietro
- de Oliveira, Hugo M
- Kent, Rosie
- Phatak, Vinaya
- Brandner, Sebastian
- Blanco, Gonzalo
- Greensmith, Linda
- Acevedo-Arozena, Abraham
- Fisher, Elizabeth M C
Producer: 20141029
In:
PloS one vol. 9
Availability: No items available.
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5306.
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5307.
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Next-generation sequencing-based method shows increased mutation detection sensitivity in an Indian retinoblastoma cohort. [electronic resource] by
- Singh, Jaya
- Mishra, Avshesh
- Pandian, Arunachalam Jayamuruga
- Mallipatna, Ashwin C
- Khetan, Vikas
- Sripriya, S
- Kapoor, Suman
- Agarwal, Smita
- Sankaran, Satish
- Katragadda, Shanmukh
- Veeramachaneni, Vamsi
- Hariharan, Ramesh
- Subramanian, Kalyanasundaram
- Mannan, Ashraf U
Producer: 20180115
In:
Molecular vision vol. 22
Availability: No items available.
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5308.
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5309.
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5310.
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Generation and phenotype of mice harboring a nonsense mutation in the V2 vasopressin receptor gene. [electronic resource] by
- Yun, J
- Schöneberg, T
- Liu, J
- Schulz, A
- Ecelbarger, C A
- Promeneur, D
- Nielsen, S
- Sheng, H
- Grinberg, A
- Deng, C
- Wess, J
Producer: 20010104
In:
The Journal of clinical investigation vol. 106
Availability: No items available.
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5311.
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5312.
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5313.
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5314.
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5315.
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5316.
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5317.
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A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state. [electronic resource] by
- Keller, Dagmar I
- Barrane, Fatima-Zahara
- Gouas, Laetitia
- Martin, Johannie
- Pilote, Sylvie
- Suarez, Vivian
- Osswald, Stefan
- Brink, Marijke
- Guicheney, Pascale
- Schwick, Nicola
- Chahine, Mohamed
Producer: 20051122
In:
The Canadian journal of cardiology vol. 21
Availability: No items available.
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5318.
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5319.
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5320.
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