Found: 22
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SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
- Published in:
- 2019
- By:
- Publication type:
- journal article
SYNE1 mutations cause autosomal-recessive ataxia with retained reflexes in Brazilian patients.
- Published in:
- 2016
- By:
- Publication type:
- case study
Epistasis analysis links immune cascades and cerebral amyloidosis.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Draft genome sequence of the rubber tree Hevea brasiliensis.
- Published in:
- BMC Genomics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2164-14-75
- By:
- Publication type:
- Article
Oligogenicity, C9orf72 expansion, and variant severity in ALS.
- Published in:
- Neurogenetics, 2020, v. 21, n. 3, p. 227, doi. 10.1007/s10048-020-00612-7
- By:
- Publication type:
- Article
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
The draft genome of the transgenic tropical fruit tree papaya (Carica papaya Linnaeus).
- Published in:
- Nature, 2008, v. 452, n. 7190, p. 991, doi. 10.1038/nature06856
- By:
- Publication type:
- Article
Syngap1 Disruption Induced by Recombination between Inverted loxP Sites Is Associated with Hippocampal Interneuron Dysfunction.
- Published in:
- eNeuro, 2023, v. 10, n. 5, p. 1, doi. 10.1523/ENEURO.0475-22.2023
- By:
- Publication type:
- Article
Increased exonic de novo mutation rate in individuals with schizophrenia.
- Published in:
- Nature Genetics, 2011, v. 43, n. 9, p. 860, doi. 10.1038/ng.886
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- Publication type:
- Article
De Novo Mutations in Moderate or Severe Intellectual Disability.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pgen.1004772
- By:
- Publication type:
- Article
Exome sequencing of sporadic childhood‐onset schizophrenia suggests the contribution of X‐linked genes in males.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2019, v. 180, n. 6, p. 335, doi. 10.1002/ajmg.b.32683
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- Publication type:
- Article
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 3, p. 199, doi. 10.1111/cge.13556
- By:
- Publication type:
- Article
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
- Published in:
- EMBO Reports, 2014, v. 15, n. 7, p. 766, doi. 10.15252/embr.201438840
- By:
- Publication type:
- Article
Mineral absorption is an enriched pathway in a brain region of restless legs syndrome patients with reduced MEIS1 expression.
- Published in:
- PLoS ONE, 2019, v. 14, n. 11, p. 1, doi. 10.1371/journal.pone.0225186
- By:
- Publication type:
- Article
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Machine learning analysis of exome trios to contrast the genomic architecture of autism and schizophrenia.
- Published in:
- BMC Psychiatry, 2020, v. 20, n. 1, p. 1, doi. 10.1186/s12888-020-02503-5
- By:
- Publication type:
- Article
Global characterization of copy number variants in epilepsy patients from whole genome sequencing.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 4, p. 1, doi. 10.1371/journal.pgen.1007285
- By:
- Publication type:
- Article
Rare deleterious variants in GRHL3 are associated with human spina bifida.
- Published in:
- Human Mutation, 2017, v. 38, n. 6, p. 716, doi. 10.1002/humu.23214
- By:
- Publication type:
- Article
Whole exome sequencing identifies novel predisposing genes in neural tube defects.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1002/mgg3.467
- By:
- Publication type:
- Article
Triple A syndrome presenting as complicated hereditary spastic paraplegia.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1134, doi. 10.1002/mgg3.492
- By:
- Publication type:
- Article
Increased Missense Mutation Burden of Fatty Acid Metabolism Related Genes in Nunavik Inuit Population.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0128255
- By:
- Publication type:
- Article
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article