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1161.
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1162.
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1163.
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1164.
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Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders. [electronic resource] by
- Nesbitt, Addie
- Bhoj, Elizabeth J
- McDonald Gibson, Kristin
- Yu, Zhenming
- Denenberg, Elizabeth
- Sarmady, Mahdi
- Tischler, Tanya
- Cao, Kajia
- Dubbs, Holly
- Zackai, Elaine H
- Santani, Avni
Producer: 20160829
In:
American journal of medical genetics. Part A vol. 167A
Availability: No items available.
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1165.
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A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. [electronic resource] by
- Corbett, Mark A
- Dudding-Byth, Tracy
- Crock, Patricia A
- Botta, Elena
- Christie, Louise M
- Nardo, Tiziana
- Caligiuri, Giuseppina
- Hobson, Lynne
- Boyle, Jackie
- Mansour, Albert
- Friend, Kathryn L
- Crawford, Jo
- Jackson, Graeme
- Vandeleur, Lucianne
- Hackett, Anna
- Tarpey, Patrick
- Stratton, Michael R
- Turner, Gillian
- Gécz, Jozef
- Field, Michael
Producer: 20151221
In:
Journal of medical genetics vol. 52
Availability: No items available.
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1166.
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1167.
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1168.
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Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases. [electronic resource] by
- Benhabiles, Hana
- Gonzalez-Hilarion, Sara
- Amand, Séverine
- Bailly, Christine
- Prévotat, Anne
- Reix, Philippe
- Hubert, Dominique
- Adriaenssens, Eric
- Rebuffat, Sylvie
- Tulasne, David
- Lejeune, Fabrice
Producer: 20171211
In:
PloS one vol. 12
Availability: No items available.
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1169.
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1170.
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1171.
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1172.
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1173.
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The antimalarial drug mefloquine enhances TP53 premature termination codon readthrough by aminoglycoside G418. [electronic resource] by
- Ferguson, Michael W
- Gerak, Chloe A N
- Chow, Christalle C T
- Rastelli, Ettore J
- Elmore, Kyle E
- Stahl, Florian
- Hosseini-Farahabadi, Sara
- Baradaran-Heravi, Alireza
- Coltart, Don M
- Roberge, Michel
Producer: 20200113
In:
PloS one vol. 14
Availability: No items available.
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1174.
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1175.
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1176.
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1177.
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1178.
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1179.
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1180.
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