Sfoglia per Rivista ORPHANET JOURNAL OF RARE DISEASES
KBG syndrome
2006-01-01 Brancati, F.; A, Sarkozy; B, Dallapiccola
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations
2012-01-01 Colombo, Ea; Elcioglu, Nh; Yucelten, D; Altunay, I; Cetincelik, U; Teti, ANNA MARIA; Del Fattore, A; Luciani, M; Sullivan, Sk; Yan, Ac; Volpi, L; Larizza, L.
The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
2013-01-01 Nikkel, Sm; Dauber, A; de Munnik, S; Connolly, M; Hood, Rl; Caluseriu, O; Hurst, J; Kini, U; Nowaczyk, Mj; Afenjar, A; Albrecht, B; Allanson, Je; Balestri, P; Ben-Omran, T; Brancati, F; Cordeiro, I; da Cunha, Bs; Delaney, La; Destrée, A; Fitzpatrick, D; Forzano, F; Ghali, N; Gillies, G; Harwood, K; Hendriks, Ym; Héron, D; Hoischen, A; Honey, Em; Hoefsloot, Lh; Ibrahim, J; Jacob, Cm; Kant, Sg; Kim, Ca; Kirk, Ep; Knoers, Nv; Lacombe, D; Lee, C; Lo, If; Lucas, Ls; Mari, F; Mericq, V; Moilanen, Js; Møller, St; Moortgat, S; Pilz, Dt; Pope, K; Price, S; Renieri, A; Sá, J; Schoots, J; Silveira, El; Simon, Me; Slavotinek, A; Temple, Ik; van der Burgt, I; de Vries, Bb; Weisfeld-Adams, Jd; Whiteford, Ml; Wierczorek, D; Wit, Jm; Yee, Cf; Beaulieu, Cl; FORGE Canada, Consortium; White, Sm; Bulman, De; Bongers, E; Brunner, H; Feingold, M; Boycott, Km
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| KBG syndrome | 1-gen-2006 | Brancati, F.; A, Sarkozy; B, Dallapiccola | |
| Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations | 1-gen-2012 | Colombo, Ea; Elcioglu, Nh; Yucelten, D; Altunay, I; Cetincelik, U; Teti, ANNA MARIA; Del Fattore, A; Luciani, M; Sullivan, Sk; Yan, Ac; Volpi, L; Larizza, L. | |
| The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. | 1-gen-2013 | Nikkel, Sm; Dauber, A; de Munnik, S; Connolly, M; Hood, Rl; Caluseriu, O; Hurst, J; Kini, U; Nowaczyk, Mj; Afenjar, A; Albrecht, B; Allanson, Je; Balestri, P; Ben-Omran, T; Brancati, F; Cordeiro, I; da Cunha, Bs; Delaney, La; Destrée, A; Fitzpatrick, D; Forzano, F; Ghali, N; Gillies, G; Harwood, K; Hendriks, Ym; Héron, D; Hoischen, A; Honey, Em; Hoefsloot, Lh; Ibrahim, J; Jacob, Cm; Kant, Sg; Kim, Ca; Kirk, Ep; Knoers, Nv; Lacombe, D; Lee, C; Lo, If; Lucas, Ls; Mari, F; Mericq, V; Moilanen, Js; Møller, St; Moortgat, S; Pilz, Dt; Pope, K; Price, S; Renieri, A; Sá, J; Schoots, J; Silveira, El; Simon, Me; Slavotinek, A; Temple, Ik; van der Burgt, I; de Vries, Bb; Weisfeld-Adams, Jd; Whiteford, Ml; Wierczorek, D; Wit, Jm; Yee, Cf; Beaulieu, Cl; FORGE Canada, Consortium; White, Sm; Bulman, De; Bongers, E; Brunner, H; Feingold, M; Boycott, Km |
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