Association of common variants in the Joubert syndrome gene ( AHI1 ) with autism

By Alvarez Retuerto Ana I.   Cantor Rita M.   Gleeson Joseph G.   Ustaszewska Anna   Schackwitz Wendy S.   Pennacchio Len A.   Geschwind Daniel H.  

Human Molecular Genetics, Vol. 17, Iss. 24, 2008-12 ,pp. : 3887-3896

Oxford University Press

Access to resources Recommend Favorite

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

By Kim Joon   Krishnaswami Suguna Rani   Gleeson Joseph G.  

Human Molecular Genetics, Vol. 17, Iss. 23, 2008-12 ,pp. : 3796-3805

Oxford University Press

Access to resources Recommend Favorite

The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis

By Zalli Detina   Bayliss Richard   Fry Andrew M.  

Human Molecular Genetics, Vol. 21, Iss. 5, 2012-03 ,pp. : 1155-1171

Oxford University Press

Access to resources Recommend Favorite

Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities

By Yu Yong   Chu Po-Yin   Bowser David N.   Keating Damien J.   Dubach Daphne   Harper Ian   Tkalcevic Josephine   Finkelstein David I.   Pritchard Melanie A.  

Human Molecular Genetics, Vol. 17, Iss. 21, 2008-11 ,pp. : 3281-3290

Oxford University Press

Access to resources Recommend Favorite

Mice deficient for the chromosome 21 ortholog Itsn1 exhibit vesicle-trafficking abnormalities

By Yu Yong   Chu Po-Yin   Bowser David N.   Keating Damien J.   Dubach Daphne   Harper Ian   Tkalcevic Josephine   Finkelstein David I.   Pritchard Melanie A.  

Human Molecular Genetics, Vol. 18, Iss. 2, 2009-01 ,pp. : 389-389

Oxford University Press

Access to resources Recommend Favorite