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Items: 2

1.

Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report.

Brajadenta GS, Sari AIP, Nauphar D, Pratamawati TM, Thoreau V.

J Med Case Rep. 2019 Aug 7;13(1):244. doi: 10.1186/s13256-019-2173-x.

2.

In cellulo analyses of the p.Val322Ala mutation on the CFTR protein conformation and activity.

Farhat R, El-Seedy A, Sari AIP, Norez C, Pasquet MC, Becq F, Kitzis A, Ladev├Ęze V.

C R Biol. 2017 Aug;340(8):367-371. doi: 10.1016/j.crvi.2017.06.001. Epub 2017 Aug 4.

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