Found: 26
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Intracranial hemorrhage after intra-arterial administration of fasudil for treatment of cerebral vasospasm following subarachnoid hemorrhage: a serious adverse event.
- Published in:
- 2012
- By:
- Publication type:
- Letter
KIF1A mutation in a patient with progressive neurodegeneration.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 11, p. 639, doi. 10.1038/jhg.2014.80
- By:
- Publication type:
- Article
Hydrocephalus and Hirschsprung’s disease with a mutation of L1CAM.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 6, p. 334, doi. 10.1007/s10038-004-0153-4
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- Publication type:
- Article
A novel genetic syndrome with STARD9 mutation and abnormal spindle morphology.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2690, doi. 10.1002/ajmg.a.38391
- By:
- Publication type:
- Article
Novel MCA/ID syndrome with ASH1L mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1644, doi. 10.1002/ajmg.a.38193
- By:
- Publication type:
- Article
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1863, doi. 10.1002/ajmg.a.37653
- By:
- Publication type:
- Article
Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 812, doi. 10.1002/ajmg.a.35245
- By:
- Publication type:
- Article
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKTmTOR pathway-associated megalencephaly.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-016-0363-6
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- Publication type:
- Article
D2-40 antibody immunoreactivity in developing human brain, brain tumors and cultured neural cells.
- Published in:
- Modern Pathology, 2006, v. 19, n. 7, p. 974, doi. 10.1038/modpathol.3800616
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- Publication type:
- Article
Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3.
- Published in:
- Child's Nervous System, 2015, v. 31, n. 3, p. 465, doi. 10.1007/s00381-014-2589-y
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- Publication type:
- Article
Feeder-Free Generation and Long-Term Culture of Human Induced Pluripotent Stem Cells Using Pericellular Matrix of Decidua Derived Mesenchymal Cells.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055226
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- Publication type:
- Article
Human neural stem/progenitor cells, expanded in long‐term neurosphere culture, promote functional recovery after focal ischemia in Mongolian gerbils.
- Published in:
- Journal of Neuroscience Research, 2004, v. 78, n. 2, p. 215, doi. 10.1002/jnr.20246
- By:
- Publication type:
- Article
Generation of Induced Pluripotent Stem Cells and Neural Stem/Progenitor Cells from Newborns with Spina Bifida Aperta.
- Published in:
- Asian Spine Journal, 2017, v. 11, n. 6, p. 870, doi. 10.4184/asj.2017.11.6.870
- By:
- Publication type:
- Article
Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.
- Published in:
- Congenital Anomalies, 2014, v. 54, n. 4, p. 243, doi. 10.1111/cga.12069
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- Publication type:
- Article
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability.
- Published in:
- Journal of Neurochemistry, 2017, v. 140, n. 1, p. 82, doi. 10.1111/jnc.13878
- By:
- Publication type:
- Article
First case of L1CAM gene mutation identified in MASA syndrome in Asia.
- Published in:
- Congenital Anomalies, 2005, v. 45, n. 2, p. 67, doi. 10.1111/j.1741-4520.2005.00067.x
- By:
- Publication type:
- Article
In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.
- Published in:
- Molecular Brain, 2016, v. 9, p. 1, doi. 10.1186/s13041-016-0246-y
- By:
- Publication type:
- Article
Evaluation of prenatal diagnosis of isolated ventriculomegaly.
- Published in:
- 2010
- By:
- Publication type:
- Abstract
Prenatal diagnosis of L1CAM gene mutations in X-linked hydrocephalus.
- Published in:
- 2006
- By:
- Publication type:
- Abstract
Long term prognosis of fetal hydrocephalus.
- Published in:
- Cerebrospinal Fluid Research, 2005, v. 2, p. S12, doi. 10.1186/1743-8454-2-S1-S12
- By:
- Publication type:
- Article
Expression of the Neural RNA-Binding Protein Musashi1 in Pediatric Brain Tumors.
- Published in:
- Pediatric Neurosurgery, 2007, v. 43, n. 4, p. 279, doi. 10.1159/000103307
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- Publication type:
- Article
A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations.
- Published in:
- Scientific Reports, 2015, p. 9331, doi. 10.1038/srep09331
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- Publication type:
- Article
Characterization of ABC transporter ABCB1 expressed in human neural stem/progenitor cells
- Published in:
- FEBS Letters, 2005, v. 579, n. 17, p. 3473, doi. 10.1016/j.febslet.2005.05.019
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- Publication type:
- Article
Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.
- Published in:
- Journal of Neurosurgery, 2006, v. 105, n. 5, p. 403, doi. 10.3171/ped.2006.105.5.403
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- Publication type:
- Article
Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I.
- Published in:
- Neuropathology, 2013, v. 33, n. 6, p. 663, doi. 10.1111/neup.12036
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- Publication type:
- Article
A case of optic-nerve hypoplasia and anterior segment abnormality associated with facial cleft.
- Published in:
- International Medical Case Reports Journal, 2016, v. 9, p. 207, doi. 10.2147/IMCRJ.S99237
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- Publication type:
- Article