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Developmental Cell, ISSN 1534-5807, 11/2012, Volume 23, Issue 5, pp. 925 - 938
Journal Article
Nature Medicine, ISSN 1078-8956, 06/2011, Volume 17, Issue 6, pp. 726 - 731
The ciliopathy Joubert syndrome is marked by cerebellar vermis hypoplasia, a phenotype for which the pathogenic mechanism is unclear(1-3). To investigate... 
RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | DISORDERS | CENTROSOMAL PROTEIN | PRIMARY CILIUM | CELL BIOLOGY | MORPHOGENESIS | MUTATIONS CAUSE | PROGENITOR POOL | AHI1 GENE | CEP290 | MEDULLOBLASTOMA | Cerebellar Diseases - etiology | Humans | Cerebellum - abnormalities | Cerebellum - physiology | Kidney Diseases, Cystic - etiology | Wnt Proteins - genetics | Cerebellar Diseases - pathology | Mice, Mutant Strains | Eye Abnormalities - etiology | Kidney Diseases, Cystic - genetics | Nuclear Proteins - genetics | Disease Models, Animal | Lithium - pharmacology | Abnormalities, Multiple | Proto-Oncogene Proteins - genetics | Eye Abnormalities - genetics | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Magnetic Resonance Imaging | Phenotype | Animals | Cerebellar Diseases - genetics | Eye Abnormalities - pathology | Signal Transduction - drug effects | Proto-Oncogene Proteins - physiology | Retina - abnormalities | Cerebellum - growth & development | Signal Transduction - physiology | Mice | Nuclear Proteins - physiology | Wnt Proteins - physiology | Retina - pathology | Brain | Joubert syndrome | Physiological aspects | Cellular signal transduction | Research | Diagnosis | Risk factors | Genotype & phenotype | Biomedical research | Mutation | Pathogenesis | Rodents | Developmental disabilities | Ahi1 | Neuroscience | Jouberin | signaling | ataxia | cilia | Wnt | cerebellum
Journal Article
Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 3/2013, Volume 251, Issue 3, pp. 959 - 965
Journal Article
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, ISSN 1008-8830, 12/2017, Volume 19, Issue 12, p. 1291
Journal Article
Archives of Disease in Childhood - Fetal and Neonatal Edition, ISSN 1359-2998, 01/2014, Volume 99, Issue 1, pp. F75 - F75
  Later, psychosocial difficulties must be balanced with the optimal timing of the potentially challenging reconstructive surgery.2 We are aware of two further... 
PEDIATRICS | Nose - abnormalities | Cataract - etiology | Humans | Congenital Abnormalities - etiology | Microphthalmos - etiology | Female | Coloboma - etiology | Hypertelorism - etiology | Anterior Eye Segment - abnormalities | Congenital Abnormalities - therapy | Infant, Newborn | Posterior Eye Segment - abnormalities | Airway management | Ostomy
Journal Article