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9096 Publications
2012 | Journal Article | IST-REx-ID: 2313
Exome sequencing can improve diagnosis and alter patient management
Dixon Salazar T, Silhavy J, Udpa N, Schroth J, Bielas S, Schaffer A, Olvera J, Bafna V, Zaki M, Abdel Salam G, Mansour L, Selim L, Abdel Hadi S, Marzouki N, Ben Omran T, Al Saana N, Sönmez F, Celep F, Azam M, Hill K, Collazo A, Fenstermaker A, Novarino G, Akizu N, Garimella K, Sougnez C, Russ C, Gabriel S, Gleeson J. 2012. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4(138).
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Dixon Salazar T, Silhavy J, Udpa N, Schroth J, Bielas S, Schaffer A, Olvera J, Bafna V, Zaki M, Abdel Salam G, Mansour L, Selim L, Abdel Hadi S, Marzouki N, Ben Omran T, Al Saana N, Sönmez F, Celep F, Azam M, Hill K, Collazo A, Fenstermaker A, Novarino G, Akizu N, Garimella K, Sougnez C, Russ C, Gabriel S, Gleeson J. 2012. Exome sequencing can improve diagnosis and alter patient management. Science Translational Medicine. 4(138).
2012 | Journal Article | IST-REx-ID: 2314
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy
Novarino G, El Fishawy P, Kayserili H, Meguid N, Scott E, Schroth J, Silhavy J, Kara M, Khalil R, Ben Omran T, Ercan Sencicek A, Hashish A, Sanders S, Gupta A, Hashem H, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris R, State M, Gleeson J. 2012. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 338(6105), 394–397.
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Novarino G, El Fishawy P, Kayserili H, Meguid N, Scott E, Schroth J, Silhavy J, Kara M, Khalil R, Ben Omran T, Ercan Sencicek A, Hashish A, Sanders S, Gupta A, Hashem H, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris R, State M, Gleeson J. 2012. Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science. 338(6105), 394–397.
2012 | Journal Article | IST-REx-ID: 2318 | 
Absence of bound states implies non-negativity of the scattering length
R. Seiringer, Journal of Spectral Theory 2 (2012) 321–328.
[Preprint]
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R. Seiringer, Journal of Spectral Theory 2 (2012) 321–328.
2012 | Conference Paper | IST-REx-ID: 2317 |
Microscopic derivation of the Ginzburg-Landau model
R. Frank, C. Hainzl, R. Seiringer, J. Solovej, in:, World Scientific Publishing, 2012, pp. 575–583.
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R. Frank, C. Hainzl, R. Seiringer, J. Solovej, in:, World Scientific Publishing, 2012, pp. 575–583.
2012 | Conference Paper | IST-REx-ID: 2316 |
Ground state properties of multi-polaron systems
R. Frank, É. Lieb, R. Seiringer, L. Thomas, in:, World Scientific Publishing, 2012, pp. 477–485.
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R. Frank, É. Lieb, R. Seiringer, L. Thomas, in:, World Scientific Publishing, 2012, pp. 477–485.