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Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM.
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- Turkish Archives of Pediatrics, 2022, v. 57, n. 5, p. 521, doi. 10.5152/TurkArchPediatr.2022.22070
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- Article
A conserved role for the ESCRT membrane budding complex in LINE retrotransposition.
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- PLoS Genetics, 2017, v. 13, n. 6, p. 1, doi. 10.1371/journal.pgen.1006837
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- Article
L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.
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- Clinical Genetics, 2017, v. 91, n. 1, p. 115, doi. 10.1111/cge.12763
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- Article
Percutaneous removal of right atrial thrombus by suction technique.
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- Cardiology in the Young, 2015, v. 25, n. 2, p. 245, doi. 10.1017/S1047951113002102
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- Article
Is there an ideal shunt? A panoramic view of 110 years in CSF diversions and shunt systems used for the treatment of hydrocephalus: from historical events to current trends.
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- Child's Nervous System, 2015, v. 31, n. 2, p. 191, doi. 10.1007/s00381-014-2608-z
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- Article
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
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- Acta Neuropathologica, 2013, v. 126, n. 3, p. 427, doi. 10.1007/s00401-013-1146-1
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- Article
Normal pressure hydrocephalus - active and passive pathogenic mechanisms.
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- Romanian Neurosurgery, 2013, v. 20, n. 3, p. 241, doi. 10.2478/romneu-2013-0007
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- Article
L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells.
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- Journal of Neurochemistry, 2013, v. 124, n. 3, p. 397, doi. 10.1111/jnc.12015
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- Article