Found: 60
Select item for more details and to access through your institution.
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 2, p. 74, doi. 10.1177/0883073818811223
- By:
- Publication type:
- Article
Toward a Computational Tool Predicting the Stereochemical Outcome of Asymmetric Reactions: Development and Application of a Rapid and Accurate Program Based on Organic Principles.
- Published in:
- Angewandte Chemie International Edition, 2008, v. 47, n. 14, p. 2635, doi. 10.1002/anie.200704774
- By:
- Publication type:
- Article
Screening for functional regulatory variants in open chromatin using GenIE-ATAC.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. 11, p. e64, doi. 10.1093/nar/gkad332
- By:
- Publication type:
- Article
next-generation Open Targets Platform: reimagined, redesigned, rebuilt.
- Published in:
- Nucleic Acids Research, 2023, v. 51, n. D1, p. D1353, doi. 10.1093/nar/gkac1046
- By:
- Publication type:
- Article
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.
- Published in:
- Nature Communications, 2017, v. 8, n. 5, p. 15606, doi. 10.1038/ncomms15606
- By:
- Publication type:
- Article
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4483, doi. 10.1038/ncomms5483
- By:
- Publication type:
- Article
A rare functional cardioprotective APOC3 variant has risen in frequency in distinct population isolates.
- Published in:
- Nature Communications, 2013, v. 4, n. 12, p. 2872, doi. 10.1038/ncomms3872
- By:
- Publication type:
- Article
Genome-Wide Mouse Mutagenesis Reveals CD45-Mediated T Cell Function as Critical in Protective Immunity to HSV-1.
- Published in:
- PLoS Pathogens, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.ppat.1003637
- By:
- Publication type:
- Article
Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas.
- Published in:
- Acta Neuropathologica, 2013, v. 125, n. 5, p. 659, doi. 10.1007/s00401-013-1095-8
- By:
- Publication type:
- Article
Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/ IDH2 and TP53 mutations.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 5, p. 615, doi. 10.1007/s00401-012-1031-3
- By:
- Publication type:
- Article
K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 3, p. 439, doi. 10.1007/s00401-012-0998-0
- By:
- Publication type:
- Article
Corrigendum: Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
- Published in:
- 2012
- By:
- Publication type:
- Erratum
Clonal selection drives genetic divergence of metastatic medulloblastoma.
- Published in:
- Nature, 2012, v. 482, n. 7386, p. 529, doi. 10.1038/nature10825
- By:
- Publication type:
- Article
Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.
- Published in:
- Nature, 2012, v. 482, n. 7384, p. 226, doi. 10.1038/nature10833
- By:
- Publication type:
- Article
Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5.
- Published in:
- Communications Biology, 2018, v. 1, n. 1, p. N.PAG, doi. 10.1038/s42003-018-0052-4
- By:
- Publication type:
- Article
A proteome- wide genetic investigation identifies several SARS- CoV-2- exploited host targets of clinical relevance.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.69719
- By:
- Publication type:
- Article
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 462, doi. 10.1038/ng.2950
- By:
- Publication type:
- Article
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
- Published in:
- Nature Genetics, 2014, v. 46, n. 5, p. 510, doi. 10.1038/ng.2948
- By:
- Publication type:
- Article
Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR.
- Published in:
- Nature Genetics, 2014, v. 46, n. 1, p. 39, doi. 10.1038/ng.2849
- By:
- Publication type:
- Article
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
- Published in:
- Nature Genetics, 2013, v. 45, n. 5, p. 556, doi. 10.1038/ng.2602
- By:
- Publication type:
- Article
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
- Published in:
- Nature Genetics, 2012, v. 44, n. 9, p. 1035, doi. 10.1038/ng.2356
- By:
- Publication type:
- Article
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 934, doi. 10.1038/ng.2331
- By:
- Publication type:
- Article
Very low-depth whole-genome sequencing in complex trait association studies.
- Published in:
- Bioinformatics, 2019, v. 35, n. 15, p. 2555, doi. 10.1093/bioinformatics/bty1032
- By:
- Publication type:
- Article
Bridging the Gap between Single Molecule and Ensemble Methods for Measuring Lateral Dynamics in the Plasma Membrane.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0078096
- By:
- Publication type:
- Article
Erratum: CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
- Published in:
- Nature, 2014, v. 511, n. 7509, p. 370, doi. 10.1038/nature13571
- By:
- Publication type:
- Article
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
- Published in:
- Nature, 2014, v. 510, n. 7504, p. 288, doi. 10.1038/nature13386
- By:
- Publication type:
- Article
Genetic variants associated with psychiatric disorders are enriched at epigenetically active sites in lymphoid cells.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-33885-7
- By:
- Publication type:
- Article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-98
- By:
- Publication type:
- Article
Intellectual disability associated with a homozygous missense mutation in THOC6.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-62
- By:
- Publication type:
- Article
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Intellectual disability associated with a homozygous missense mutation in THOC6.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Specific combination of compound heterozygous mutations in 17βhydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 90, doi. 10.1186/1750-1172-7-90
- By:
- Publication type:
- Article
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 67, doi. 10.1186/1750-1172-7-67
- By:
- Publication type:
- Article
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
- Published in:
- BMC Neurology, 2014, v. 14, n. 1, p. 1
- By:
- Publication type:
- Article
The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
- Published in:
- 2014
- By:
- Publication type:
- journal article
A family segregating lethal neonatal coenzyme Q<sub>10</sub> deficiency caused by mutations in COQ9.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 719, doi. 10.1007/s10545-017-0122-7
- By:
- Publication type:
- Article
Integrative GWAS and co-localisation analysis suggests novel genes associated with age-related multimorbidity.
- Published in:
- Scientific Data, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41597-023-02513-4
- By:
- Publication type:
- Article
Screening for functional transcriptional and splicing regulatory variants with GenIE.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 22, p. e131, doi. 10.1093/nar/gkaa960
- By:
- Publication type:
- Article
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 28, doi. 10.1186/s12881-015-0175-0
- By:
- Publication type:
- Article
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 156, doi. 10.1186/s12881-014-0139-9
- By:
- Publication type:
- Article
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-36
- By:
- Publication type:
- Article
Differential stability of 2′F-ANA•RNA and ANA•RNA hybrid duplexes: roles of structure, pseudohydrogen bonding, hydration, ion uptake and flexibility.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 7, p. 2498, doi. 10.1093/nar/gkp1225
- By:
- Publication type:
- Article
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
- Published in:
- Human Mutation, 2016, v. 37, n. 3, p. 269, doi. 10.1002/humu.22942
- By:
- Publication type:
- Article
GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK.
- Published in:
- Human Mutation, 2015, v. 36, n. 10, p. 1009, doi. 10.1002/humu.22837
- By:
- Publication type:
- Article
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.
- Published in:
- Human Mutation, 2015, v. 36, n. 2, p. 281, doi. 10.1002/humu.22756
- By:
- Publication type:
- Article
Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-t RNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafness, and Peripheral Neuropathy or with Leigh Syndrome.
- Published in:
- Human Mutation, 2014, v. 35, n. 11, p. 1285, doi. 10.1002/humu.22629
- By:
- Publication type:
- Article
Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 45, doi. 10.1002/humu.22451
- By:
- Publication type:
- Article
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 385, doi. 10.1002/humu.22248
- By:
- Publication type:
- Article