Found: 83
Select item for more details and to access through your institution.
CuboCube: Student creation of a cancer genetics e-textbook using open-access software for social learning.
- Published in:
- PLoS Biology, 2017, v. 15, n. 3, p. 1, doi. 10.1371/journal.pbio.2001192
- By:
- Publication type:
- Article
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.
- Published in:
- Journal of Child Neurology, 2018, v. 33, n. 1, p. 106, doi. 10.1177/0883073817740443
- By:
- Publication type:
- Article
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0248-3
- By:
- Publication type:
- Article
The genotypic and phenotypic spectrum of PIGA deficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0243-8
- By:
- Publication type:
- Article
Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.
- Published in:
- Child Neurology Open, 2016, v. 3, p. 1, doi. 10.1177/2329048X16669912
- By:
- Publication type:
- Article
The SIN3A histone deacetylase complex is required for a complete transcriptional response to hypoxia.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 1, p. 120, doi. 10.1093/nar/gkx951
- By:
- Publication type:
- Article
Evaluating the impact of single nucleotide variants on transcription factor binding.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 21, p. 10106, doi. 10.1093/nar/gkw691
- By:
- Publication type:
- Article
Identification of non-coding genetic variants in samples from hypoxemic respiratory disease patients that affect the transcriptional response to hypoxia.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 19, p. 9315, doi. 10.1093/nar/gkw811
- By:
- Publication type:
- Article
JASPAR 2016: a major expansion and update of the open-access database of transcription factor binding profiles.
- Published in:
- Nucleic Acids Research, 2016, v. 44, n. 1, p. D110, doi. 10.1093/nar/gkv1176
- By:
- Publication type:
- Article
JASPAR 2014: an extensively expanded and updated open-access database of transcription factor binding profiles.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. D1, p. D142, doi. 10.1093/nar/gkt997
- By:
- Publication type:
- Article
TFBSshape: a motif database for DNA shape features of transcription factor binding sites.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. D1, p. D148, doi. 10.1093/nar/gkt1087
- By:
- Publication type:
- Article
Towards resolving the transcription factor network controlling myelin gene expression.
- Published in:
- Nucleic Acids Research, 2011, v. 39, n. 18, p. 7974, doi. 10.1093/nar/gkr326
- By:
- Publication type:
- Article
Global mapping of binding sites for Nrf2 identifies novel targets in cell survival response through ChIP-Seq profiling and network analysis.
- Published in:
- Nucleic Acids Research, 2010, v. 38, n. 17, p. 5718, doi. 10.1093/nar/gkq212
- By:
- Publication type:
- Article
JASPAR 2010: the greatly expanded open-access database of transcription factor binding profiles.
- Published in:
- Nucleic Acids Research, 2010, v. 38, p. D105, doi. 10.1093/nar/gkp950
- By:
- Publication type:
- Article
The PAZAR database of gene regulatory information coupled to the ORCA toolkit for the study of regulatory sequences.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. suppl_1, p. D54, doi. 10.1093/nar/gkn783
- By:
- Publication type:
- Article
oPOSSUM: integrated tools for analysis of regulatory motif over-representation.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. suppl_2, p. W245, doi. 10.1093/nar/gkm427
- By:
- Publication type:
- Article
A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 712, doi. 10.1002/ajmg.a.37621
- By:
- Publication type:
- Article
Human-mouse genome comparisons to locate regulatory sites.
- Published in:
- Nature Genetics, 2000, v. 26, n. 2, p. 225, doi. 10.1038/79965
- By:
- Publication type:
- Article
RevUP: an online scoring system for regulatory variants implicated in rare diseases.
- Published in:
- Bioinformatics, 2022, v. 38, n. 9, p. 2664, doi. 10.1093/bioinformatics/btac157
- By:
- Publication type:
- Article
YY1 binding association with sex-biased transcription revealed through X-linked transcript levels and allelic binding analyses.
- Published in:
- Scientific Reports, 2016, p. 37324, doi. 10.1038/srep37324
- By:
- Publication type:
- Article
Biologically relevant transfer learning improves transcription factor binding prediction.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02499-5
- By:
- Publication type:
- Article
Discovery and Expansion of Gene Modules by Seeking Isolated Groups in a Random Graph Process.
- Published in:
- PLoS ONE, 2008, v. 3, n. 10, p. 1, doi. 10.1371/journal.pone.0003358
- By:
- Publication type:
- Article
Gene Characterization Index: Assessing the Depth of Gene Annotation.
- Published in:
- PLoS ONE, 2008, v. 3, n. 1, p. 1, doi. 10.1371/journal.pone.0001440
- By:
- Publication type:
- Article
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.
- Published in:
- 2021
- By:
- Publication type:
- Letter
Integrated analysis of yeast regulatory sequences for biologically linked clusters of genes.
- Published in:
- Functional & Integrative Genomics, 2003, v. 3, n. 3, p. 125, doi. 10.1007/s10142-003-0086-6
- By:
- Publication type:
- Article
Applied bioinformatics for the identification of regulatory elements.
- Published in:
- Nature Reviews Genetics, 2004, v. 5, n. 4, p. 276, doi. 10.1038/nrg1315
- By:
- Publication type:
- Article
Prediction of Blood Risk Score in Diabetes Using Deep Neural Networks.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 4, p. 1695, doi. 10.3390/jcm12041695
- By:
- Publication type:
- Article
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1301, doi. 10.1038/ejhg.2014.293
- By:
- Publication type:
- Article
NovelFam3000 - Uncharacterized human protein domains conserved across model organisms.
- Published in:
- BMC Genomics, 2006, v. 7, p. 48, doi. 10.1186/1471-2164-7-48
- By:
- Publication type:
- Article
Identification of functional SNPs in the 5-prime flanking sequences of human genes.
- Published in:
- BMC Genomics, 2005, v. 6, p. 18, doi. 10.1186/1471-2164-6-18
- By:
- Publication type:
- Article
Arrays of ultraconserved non-coding regions span the loci of key developmental genes in vertebrate genomes.
- Published in:
- BMC Genomics, 2004, v. 5, p. 99, doi. 10.1186/1471-2164-5-99
- By:
- Publication type:
- Article
Quantitative biomedical annotation using medical subject heading over-representation profiles (MeSHOPs).
- Published in:
- BMC Bioinformatics, 2012, v. 13, n. 1, p. 1, doi. 10.1186/1471-2105-13-249
- By:
- Publication type:
- Article
MIR@NT@N: a framework integrating transcription factors, microRNAs and their targets to identify sub-network motifs in a meta-regulation network model.
- Published in:
- BMC Bioinformatics, 2011, v. 12, n. 1, p. 67, doi. 10.1186/1471-2105-12-67
- By:
- Publication type:
- Article
The Gene Set Builder: collation, curation, and distribution of sets of genes.
- Published in:
- BMC Bioinformatics, 2005, v. 6, p. 305, doi. 10.1186/1471-2105-6-305
- By:
- Publication type:
- Article
Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Portal for Families Overcoming Neurodevelopmental Disorders (PFOND): Implementation of a Software Framework for Facilitated Community Website Creation by Nontechnical Volunteers.
- Published in:
- Journal of Medical Internet Research, 2013, v. 15, n. 8, p. 1, doi. 10.2196/resprot.2675
- By:
- Publication type:
- Article
Utilizing Social Media to Study Information-Seeking and Ethical Issues in Gene Therapy.
- Published in:
- Journal of Medical Internet Research, 2013, v. 15, n. 3, p. 1, doi. 10.2196/jmir.2313
- By:
- Publication type:
- Article
A new generation of JASPAR, the open-access repository for transcription factor binding site profiles.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. suppl 1, p. d95, doi. 10.1093/nar/gkj115
- By:
- Publication type:
- Article
oPOSSUM: identification of over-represented transcription factor binding sites in co-expressed genes.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 10, p. 3154, doi. 10.1093/nar/gki624
- By:
- Publication type:
- Article
ConSite: web-based prediction of regulatory elements using cross-species comparison.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. suppl 2, p. w249, doi. 10.1093/nar/gkh372
- By:
- Publication type:
- Article
MSCAN: identification of functional clusters of transcription factor binding sites.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. suppl 2, p. w195, doi. 10.1093/nar/gkh387
- By:
- Publication type:
- Article
JASPAR: an open‐access database for eukaryotic transcription factor binding profiles.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. suppl 1, p. d91
- By:
- Publication type:
- Article
FLAGS, frequently mutated genes in public exomes.
- Published in:
- BMC Medical Genomics, 2014, v. 7, p. 1, doi. 10.1186/s12920-014-0064-y
- By:
- Publication type:
- Article
On the identification of potential regulatory variants within genome wide association candidate SNP sets.
- Published in:
- BMC Medical Genomics, 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8794-7-34
- By:
- Publication type:
- Article
Compensating for literature annotation bias when predicting novel drug-disease relationships through Medical Subject Heading Over-representation Profile (MeSHOP) similarity.
- Published in:
- BMC Medical Genomics, 2013, v. 6, n. Suppl 2, p. 1, doi. 10.1186/1755-8794-6-S2-S3
- By:
- Publication type:
- Article
The Next Generation of Transcription Factor Binding Site Prediction.
- Published in:
- PLoS Computational Biology, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.pcbi.1003214
- By:
- Publication type:
- Article
Validation of Skeletal Muscle cis-Regulatory Module Predictions Reveals Nucleotide Composition Bias in Functional Enhancers.
- Published in:
- PLoS Computational Biology, 2011, v. 7, n. 12, p. 1, doi. 10.1371/journal.pcbi.1002256
- By:
- Publication type:
- Article