Found: 8
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SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
- Published in:
- Human Genetics, 2017, v. 136, n. 4, p. 463, doi. 10.1007/s00439-017-1772-0
- By:
- Publication type:
- Article
Surgical Outcome in Tuberous Sclerosis Complex: A Multicenter Survey.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 8, p. 1625, doi. 10.1111/j.1528-1167.2007.01112.x
- By:
- Publication type:
- Article
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
MFN2, a new gene responsible for mitochondrial DNA depletion.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 8, p. e223, doi. 10.1093/brain/aws111
- By:
- Publication type:
- Article
Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 428, doi. 10.1002/ajmg.a.36857
- By:
- Publication type:
- Article
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 12, p. 1931, doi. 10.1111/epi.13214
- By:
- Publication type:
- Article
Novel POLR1C mutation in RNA polymerase III‐related leukodystrophy with severe myoclonus and dystonia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.914
- By:
- Publication type:
- Article