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Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro. [PDF]
Cell Tissue ResDe Mori R +13 more
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Archives of Ophthalmology, 1989
Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We
S R, Lambert +4 more
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Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We
S R, Lambert +4 more
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Joubert syndrome and Joubert syndrome-related disorders
2013Victoria Harrison, Andrea H. Németh
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[Joubert syndrome (Joubert-Boltshauser syndrome)].
Ryoikibetsu shokogun shirizu, 1999Y, Saito, M, Tsuyusaki
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