Found: 13
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Phenotypic and molecular insights into CASK-related disorders in males.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0256-3
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- Publication type:
- Article
Phenotypic and molecular insights into CASK-related disorders in males.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 44, doi. 10.1186/s13023-015-0256-3
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- Publication type:
- Article
The failure of microglia to digest developmental apoptotic cells contributes to the pathology of RNASET2‐deficient leukoencephalopathy.
- Published in:
- Glia, 2020, v. 68, n. 7, p. 1531, doi. 10.1002/glia.23829
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- Publication type:
- Article
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
- Published in:
- Nature Genetics, 2009, v. 41, n. 7, p. 773, doi. 10.1038/ng.398
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- Publication type:
- Article
Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.
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- 2016
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- Publication type:
- journal article
Late onset vanishing white matter disease.
- Published in:
- Journal of Neurology, 2007, v. 254, n. 4, p. 544, doi. 10.1007/s00415-006-0306-9
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- Publication type:
- Article
Assessment of myelination in hypomyelinating disorders by quantitative MRI.
- Published in:
- Journal of Magnetic Resonance Imaging, 2012, v. 36, n. 6, p. 1329, doi. 10.1002/jmri.23774
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- Publication type:
- Article
Assessment of myelination in hypomyelinating disorders by quantitative MRI.
- Published in:
- Journal of Magnetic Resonance Imaging, 2012, v. 36, n. 6, p. spcone, doi. 10.1002/jmri.23557
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- Publication type:
- Article
Pelizaeus–Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 9, p. 985, doi. 10.1038/ejhg.2010.61
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- Publication type:
- Article
Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005050
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- Publication type:
- Article
Identification of ten novel mutations in patients with eIF2B-related disorders.
- Published in:
- Human Mutation, 2005, v. 25, n. 4, p. 411, doi. 10.1002/humu.9325
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- Publication type:
- Article
Einseitige Optikusatrophie bei einem 9-jährigen Patienten.
- Published in:
- Der Ophthalmologe, 2021, v. 118, n. 4, p. 399, doi. 10.1007/s00347-020-01147-w
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- Publication type:
- Article
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease(Communicated by Mark H. Paalman)Online Citation: Human Mutation, Mutation in Brief #658 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/658.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 417, doi. 10.1002/humu.9187
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- Publication type:
- Article