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TypeTitleAuthor(s)YearViews
Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletionAldinger, KA; Kogan, J; Kimonis, V; Fernandez, B; Horn, D; Klopocki, E; Chung, B; Toutain, A; Weksberg, R; Millen, KJ; Barkovich, AJ; Dobyns, WB201381
 
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locusSpielmann, M; Brancati, F; Krawitz, PM; Robinson, PN; Ibrahim, DM; Franke, M; Hecht, J; Lohan, S; Dathe, K; Nardone, AM; Ferrari, P; Landi, A; Wittler, L; Timmermann, B; Chan, D; Mennen, U; Klopocki, E; Mundlos, S201214
 
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosisKlopocki, E; Lohan, S; Brancati, F; Koll, R; Brehm, A; Seemann, P; Dathe, K; Stricker, S; Hecht, J; Bosse, K; Betz, RC; Garaci, FG; Dallapiccola, B; Jain, M; Muenke, M; Ng, VCW; Chan, W; Chan, D; Mundlos, S2011182
 
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