Found: 13
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A Novel de novo Frameshift Mutation in the BCL11A Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 12, p. 4502, doi. 10.3390/ijms21124502
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- Publication type:
- Article
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
- Published in:
- 2011
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- Publication type:
- journal article
Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1388
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- Publication type:
- Article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 661, doi. 10.1038/ng.3282
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- Publication type:
- Article
Horizontal head titubation in infants with Joubert syndrome: a new finding.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 10, p. 1016, doi. 10.1111/dmcn.12489
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- Publication type:
- Article
Role of leukotrienes as indicators of the inflammatory demyelinating reaction in x-linked cerebral adrenoleukodystrophy.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 10, p. 1259, doi. 10.1007/s00415-003-0189-y
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- Publication type:
- Article
Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 563, doi. 10.1038/sj.ejhg.5201391
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- Publication type:
- Article
Novel mutations in the GJC2 gene associated with Pelizaeus–Merzbacher-like disease.
- Published in:
- Molecular Biology Reports, 2019, v. 46, n. 4, p. 4507, doi. 10.1007/s11033-019-04906-4
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- Publication type:
- Article
Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 3, p. e60, doi. 10.1111/epi.13307
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- Publication type:
- Article
Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1917, doi. 10.1002/ajmg.a.34102
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- Publication type:
- Article
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1207, doi. 10.1002/humu.22099
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- Publication type:
- Article