| 1 |
Clinical and molecular features of Joubert syndrome and related disorders |
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| | Parisi, M.A. | | | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2009; 151(4): 326-340 | | | [Pubmed] [Google Scholar] | | | 2 |
Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease |
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| | Doherty, D. | | | Seminars in Pediatric Neurology. 2009; 16(3): 143-154 | | | [Pubmed] [Google Scholar] | | | 3 |
Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome |
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| | Boycott, K.M., Parboosingh, J.S., Scott, J.N., McLeod, D.R., Greenberg, C.R., Fujiwara, T.M., Mah, J.K., (...), Innes, A.M. | | | American Journal of Medical Genetics, Part A. 2007; 143(15): 1715-1725 | | | [Pubmed] [Google Scholar] | | | 4 |
Joubert syndrome (and related disorders) (OMIM 213300) |
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| | Parisi MA, Doherty D, Chance PF, et al. | | | EUROPEAN JOURNAL OF HUMAN GENETICS. 2007; 15 (5): 511-521 | | | [Pubmed] [Google Scholar] | |
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