Results 231 to 238 of about 20,451 (238)
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2010
Both Meckel (Gruber) syndrome (MKS; MIM 249000) and Joubert syndrome and related disorders (JSRD; MIM 213300) are rare, autosomal recessive genetic disorders that share congenital malformations of the posterior fossa or the hindbrain and are associated with defects in the structure and/or the function of the primary cilium.
Laura S. Finn +2 more
openaire +2 more sources
Both Meckel (Gruber) syndrome (MKS; MIM 249000) and Joubert syndrome and related disorders (JSRD; MIM 213300) are rare, autosomal recessive genetic disorders that share congenital malformations of the posterior fossa or the hindbrain and are associated with defects in the structure and/or the function of the primary cilium.
Laura S. Finn +2 more
openaire +2 more sources
Chorioretinal coloboma and Joubert syndrome
The Journal of Pediatrics, 1985P.G. Barth, D. Lindhout
openaire +3 more sources
Joubert syndrome and Joubert syndrome-related disorders
2013Victoria Harrison, Andrea H. Németh
openaire +1 more source
Image of the Month: Joubert Syndrome
Pediatric Neurosurgery, 1999Thomas G. Keens +2 more
openaire +3 more sources