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Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency..
Mol Cell Neurosci
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Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores.
American Journal of Human Genetics
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Payne, JM, Hyman, SL, Shores, EA, North, KN.
Assessment of executive function and attention in children with neurofibromatosis type 1: relationships between cognitive measures and real-world behavior..
Child Neuropsychol
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Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores..
Am J Hum Genet
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Yiu, EM, Klausegger, A, Waddell, L, Tran, K, Chow, CW, North, K, Murrell, D, Ryan, MM.
59. Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency.
Journal of Clinical Neuroscience
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