Yazar "Parisi, M. A." için listeleme
-
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
Bachmann-Gagescu, R.; Dempsey, J. C.; Phelps, I. G.; O'Roak, B. J.; Knutzen, D. M.; Rue, T. C.; Parisi, M. A. (Bmj Publishing Group, 2015)Background Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterised by hypotonia, ataxia, cognitive impairment, abnormal eye movements, respiratory control disturbances and a distinctive mid-hindbrain ... -
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
Doherty, D.; Parisi, M. A.; Finn, L. S.; Gunay-Aygun, M.; Al-Mateen, M.; Bates, D.; Glass, I. A. (B M J Publishing Group, 2010)Objective To identify genetic causes of COACH syndrome Background COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), ...
