Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Bachmann-Gagescu, R, Dempsey, J C, Phelps, I G, O'Roak, B J, Knutzen, D M, Rue, T C, Ishak, G E, Isabella, C R, Gorden, N, Adkins, J, Boyle, E A, de Lacy, N, O'Day, D, Alswaid, A, Ramadevi A, Radha, Lingappa, L, Lourenço, C, Martorell, L, Garcia-Cazorla, À, Ozyürek, H, Haliloğlu, G, Tuysuz, B, Topçu, M, Chance, P, Parisi, M A, Glass, I A, Shendure, J, Doherty, D
Published in Journal of medical genetics (01.08.2015)
Published in Journal of medical genetics (01.08.2015)
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Journal Article
Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing
Bachmann-Gagescu, R, Dempsey, J, Phelps, IG, Isabella, C, O'Day, D, O'Roak, B, Shendure, J, Glass, I, Doherty, D
Published in Cilia (London) (13.07.2015)
Published in Cilia (London) (13.07.2015)
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Journal Article
Live imaging of Rab8 trafficking defects in cc2d2a mutant zebrafish
Bachmann-Gagescu, R, Phelps, IG, Forbes, A, Doherty, D, Moens, CB
Published in Cilia (London) (16.11.2012)
Published in Cilia (London) (16.11.2012)
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Journal Article