Sfoglia per Rivista NATURE GENETICS
Mutations in NHLRC1 cause progressive myoclonus epilepsy
2003-01-01 Chan, Em; Young, Ej; Ianzano, L; Munteanu, I; Zhao, Xc; Christopoulos, Cc; Avanzini, G; Elia, M; Ackerley, Ca; Jovic, Nj; Bohlega, S; Andermann, E; Rouleau, Ga; Delgado-Escueta, Av; Minassian, Ba; Scherer, Sw
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
2014-01-01 Coe, B P; Witherspoon, K; Rosenfeld, Ja; van Bon, B W M; Vulto-van Silfhout, At; Bosco, P; Friend, K L; Baker, C; Buono, S; Vissers, L E L M; Schuurs-Hoeijmakers, J H; Hoischen, A; Pfundt, R; Krumm, N; Carvill, G L; Li, D; Amaral, D; Brown, N; Lockhart, P J; Scheffer, I E; Alberti, A; Shaw, M; Pettinato, R; Tervo, R; de Leeuw, N; Reijnders, M R F; Torchia, B S; Peeters, H; Thompson, E; O’Roak, B J; Fichera, M; Hehir-Kwa, J Y; Shendure, J; Mefford, H C; Haan, E; Gécz, J; de Vries, B B A; Romano, C & Eichler E E
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Mutations in NHLRC1 cause progressive myoclonus epilepsy | 1-gen-2003 | Chan, Em; Young, Ej; Ianzano, L; Munteanu, I; Zhao, Xc; Christopoulos, Cc; Avanzini, G; Elia, M; Ackerley, Ca; Jovic, Nj; Bohlega, S; Andermann, E; Rouleau, Ga; Delgado-Escueta, Av; Minassian, Ba; Scherer, Sw | |
| Refining analyses of copy number variation identifies specific genes associated with developmental delay. | 1-gen-2014 | Coe, B P; Witherspoon, K; Rosenfeld, Ja; van Bon, B W M; Vulto-van Silfhout, At; Bosco, P; Friend, K L; Baker, C; Buono, S; Vissers, L E L M; Schuurs-Hoeijmakers, J H; Hoischen, A; Pfundt, R; Krumm, N; Carvill, G L; Li, D; Amaral, D; Brown, N; Lockhart, P J; Scheffer, I E; Alberti, A; Shaw, M; Pettinato, R; Tervo, R; de Leeuw, N; Reijnders, M R F; Torchia, B S; Peeters, H; Thompson, E; O’Roak, B J; Fichera, M; Hehir-Kwa, J Y; Shendure, J; Mefford, H C; Haan, E; Gécz, J; de Vries, B B A; Romano, C & Eichler E E |
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