Joubert Syndrome With Bilateral Polymicrogyria: Clinical and Neuropathological Findings in Two BrothersGIORDANO, L; VIGNOLI, A; FRASSONI, C et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 7, pp 1511-1515, issn 1552-4825, 5 p.Article

Something to Sink Your Teeth IntoCOUCH, Steven M; BRODIE, Scott E; LEAVITT, Jacqueline A et al.Survey of ophthalmology. 2011, Vol 56, Num 6, pp 544-549, issn 0039-6257, 6 p.Article

Pontine Tegmental Cap Dysplasia: The Severe End of the Clinical SpectrumRAUSCHER, C; PORETTI, A; NEUHANN, T. M et al.Neuropediatrics. 2009, Vol 40, Num 1, pp 43-46, issn 0174-304X, 4 p.Article

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disordersBRANCATI, F; TRAVAGLINI, L; RIGOLI, L et al.Clinical genetics. 2008, Vol 74, Num 2, pp 164-170, issn 0009-9163, 7 p.Article

Spectrum of malformations of the hindbrain (cerebellum, pons, and medulla) in a cohort of children with high rate of parental consanguinitySZTRIHA, Laszlo; JOHANSEN, Johan G.American journal of medical genetics. 2005, Vol 135A, Num 2, pp 134-141, issn 0148-7299, 8 p.Article

DNA analysis of AHI1, NPHP1 and CYCLIN Dl in Joubert syndrome patients from the NetherlandsKROES, Hester Y; VAN ZON, Patrick H. A; MAAS, Saskia M et al.European journal of medical genetics. 2008, Vol 51, Num 1, pp 24-34, issn 1769-7212, 11 p.Article

Co-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic DystrophyLEHMAN, A. M; EYDOUX, P; TRNKA, P et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 6, pp 1411-1419, issn 1552-4825, 9 p.Article