Joubert Syndrome - A Case Report [PDF]
Journal of Krishna Institute of Medical Sciences University, 2013 Joubert syndrome is a very rare malformation.It is estimated to affect between 1 in 80,000and 1 in 100,000 newborns.Joubert syndromeis an autosomal recessive disorder marked byagenesis of cerebellar vermis, ataxia, hypoto-nia, oculomotor apraxia ...
Bandichhode S. T. +2 more
doaj
Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies [PDF]
, 2008 Jennifer Doering +10 more
openalex +1 more source
Molar tooth sign: Neuroimaging characteristic of Joubert syndrome [PDF]
, 2008 Tarun Nagpal, Sanjay Pande
openalex +1 more source
Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome [PDF]
, 2008 Vincent Cantagrel +24 more
openalex +1 more source
When is biopsy-proven TIN not simply TIN? Answers [PDF]
, 2017 This article refers to the article that can be found at doi: 10.1007/s00467-016-3465 ...
Chong, WK +4 more
core
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking [PDF]
, 2009 Yi-Chun Hsiao +5 more
openalex +1 more source
Role of MR Imaging in Prenatal Diagnosis of Pregnancies at Risk for Joubert Syndrome and Related Cerebellar Disorders [PDF]
, 2009 Sahar N. Saleem, Maha S. Zaki
openalex +1 more source
Uner Tan Syndrome: History, Clinical Evaluations, Genetics, and the\ud Dynamics of Human Quadrupedalism [PDF]
, 2010 : This review includes for the first time a dynamical systems analysis of human quadrupedalism in Uner Tan syndrome, which is characterized by habitual quadrupedalism, impaired intelligence, and rudimentary speech.
Tan, Prof. Dr. Uner
core