Sfoglia per Rivista GENETICS IN MEDICINE
Quantifying evidence toward pathogenicity for rare phenotypes: the case of succinate dehydrogenase genes, SDHB and SDHD
2022-01-01 Garrett, A.; Loveday, C.; King, L.; Butler, S.; Robinson, R.; Horton, C.; Yussuf, A.; Choi, S.; Torr, B.; Durkie, M.; Burghel, G. J.; Drummond, J.; Berry, I.; Wallace, A.; Callaway, A.; Eccles, D.; Tischkowitz, M.; Tatton-Brown, K.; Snape, K.; Mcveigh, T.; Izatt, L.; Woodward, E. R.; Burnichon, N.; Gimenez-Roqueplo, A. -P.; Mazzarotto, F.; Whiffin, N.; Ware, J.; Hanson, H.; Pesaran, T.; Laduca, H.; Buffet, A.; Maher, E. R.; Turnbull, C.
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
2017-01-01 Walsh, R; Thomson, Kl; Ware, Js; Funke, Bh; Woodley, J; Mcguire, Kj; Mazzarotto, F; Blair, E; Seller, A; Taylor, Jc; Minikel, Ev; Macarthur, Dg; Farrall, M; Cook, Sa; Watkins, H
Sudden hearing loss and MTHFR 677 > T/1298A > C gene polymorphisms.
2005-01-01 Capaccio, P; Ottaviani, F; Cuccarini, V; Ambrosetti, U; Fagnani, E; Bottero, A; Cenzuales, S; Cesana, Bruno Mario; Pignataro, L.
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
2021-01-01 Mazzarotto, F.; Hawley, M. H.; Beltrami, M.; Beekman, L.; de Marvao, A.; Mcgurk, K. A.; Statton, B.; Boschi, B.; Girolami, F.; Roberts, A. M.; Lodder, E. M.; Allouba, M.; Romeih, S.; Aguib, Y.; Baksi, A. J.; Pantazis, A.; Prasad, S. K.; Cerbai, E.; Yacoub, M. H.; O'Regan, D. P.; Cook, S. A.; Ware, J. S.; Funke, B.; Olivotto, I.; Bezzina, C. R.; Barton, P. J. R.; Walsh, R.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Quantifying evidence toward pathogenicity for rare phenotypes: the case of succinate dehydrogenase genes, SDHB and SDHD | 1-gen-2022 | Garrett, A.; Loveday, C.; King, L.; Butler, S.; Robinson, R.; Horton, C.; Yussuf, A.; Choi, S.; Torr, B.; Durkie, M.; Burghel, G. J.; Drummond, J.; Berry, I.; Wallace, A.; Callaway, A.; Eccles, D.; Tischkowitz, M.; Tatton-Brown, K.; Snape, K.; Mcveigh, T.; Izatt, L.; Woodward, E. R.; Burnichon, N.; Gimenez-Roqueplo, A. -P.; Mazzarotto, F.; Whiffin, N.; Ware, J.; Hanson, H.; Pesaran, T.; Laduca, H.; Buffet, A.; Maher, E. R.; Turnbull, C. | |
| Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples | 1-gen-2017 | Walsh, R; Thomson, Kl; Ware, Js; Funke, Bh; Woodley, J; Mcguire, Kj; Mazzarotto, F; Blair, E; Seller, A; Taylor, Jc; Minikel, Ev; Macarthur, Dg; Farrall, M; Cook, Sa; Watkins, H | |
| Sudden hearing loss and MTHFR 677 > T/1298A > C gene polymorphisms. | 1-gen-2005 | Capaccio, P; Ottaviani, F; Cuccarini, V; Ambrosetti, U; Fagnani, E; Bottero, A; Cenzuales, S; Cesana, Bruno Mario; Pignataro, L. | |
| Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies | 1-gen-2021 | Mazzarotto, F.; Hawley, M. H.; Beltrami, M.; Beekman, L.; de Marvao, A.; Mcgurk, K. A.; Statton, B.; Boschi, B.; Girolami, F.; Roberts, A. M.; Lodder, E. M.; Allouba, M.; Romeih, S.; Aguib, Y.; Baksi, A. J.; Pantazis, A.; Prasad, S. K.; Cerbai, E.; Yacoub, M. H.; O'Regan, D. P.; Cook, S. A.; Ware, J. S.; Funke, B.; Olivotto, I.; Bezzina, C. R.; Barton, P. J. R.; Walsh, R. |
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