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SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family.
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- Annals of Neurology, 2001, v. 49, n. 1, p. 117, doi. 10.1002/1531-8249(200101)49:1<117::AID-ANA19>3.0.CO;2-G
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- Article
Clinical Genetics of Prolidase Deficiency: An Updated Review.
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- Biology (2079-7737), 2020, v. 9, n. 5, p. 108, doi. 10.3390/biology9050108
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- Article
Fra-1 regulates its target genes via binding to remote enhancers without exerting major control on chromatin architecture in triple negative breast cancers.
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- Nucleic Acids Research, 2021, v. 49, n. 5, p. 2488, doi. 10.1093/nar/gkab053
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- Article
Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content.
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- Brain: A Journal of Neurology, 2002, v. 125, n. 7, p. 1534, doi. 10.1093/brain/awf154
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- Article
Probing transcription factor combinatorics in different promoter classes and in enhancers.
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- BMC Genomics, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s12864-018-5408-0
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- Article
Identification of long regulatory elements in the genome of Plasmodium falciparum and other eukaryotes.
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- PLoS Computational Biology, 2021, v. 17, n. 4, p. 1, doi. 10.1371/journal.pcbi.1008909
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- Article
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 542, doi. 10.1038/ejhg.2013.171
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- Article
Maternal uniparental heterodisomy of chromosome 17 in a patient with nephropathic cystinosis.
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- European Journal of Human Genetics, 2009, v. 17, n. 8, p. 1019, doi. 10.1038/ejhg.2009.13
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- Article
Inferring Dynamic Genetic Networks with Low Order Independencies.
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- Statistical Applications in Genetics & Molecular Biology, 2009, v. 8, n. 1, p. 1, doi. 10.2202/1544-6115.1294
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- Article
Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions.
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- Acta Neuropathologica, 2004, v. 108, n. 1, p. 81, doi. 10.1007/s00401-004-0855-x
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- Article
Optimizing data integration improves gene regulatory network inference in Arabidopsis thaliana.
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- Bioinformatics, 2024, v. 40, n. 7, p. 1, doi. 10.1093/bioinformatics/btae415
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- Article
Dynamic Bayesian networks in molecular plant science: inferring gene regulatory networks from multiple gene expression time series.
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- Euphytica, 2012, v. 183, n. 3, p. 361, doi. 10.1007/s10681-011-0538-3
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- Article
Mutational Characteristics of Primary Mucosal Melanoma: A Systematic Review.
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- Molecular Diagnosis & Therapy, 2022, v. 26, n. 2, p. 189, doi. 10.1007/s40291-021-00572-0
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- Article
A gene regulatory network in Arabidopsis roots reveals features and regulators of the plant response to elevated CO<sub>2</sub>.
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- New Phytologist, 2023, v. 239, n. 3, p. 992, doi. 10.1111/nph.18788
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- Article
Probing instructions for expression regulation in gene nucleotide compositions.
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- PLoS Computational Biology, 2018, v. 14, n. 1, p. 1, doi. 10.1371/journal.pcbi.1005921
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- Article
Cancer Mortality Among French Nuclear Contract Workers.
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- American Journal of Industrial Medicine, 2009, v. 52, n. 12, p. 916, doi. 10.1002/ajim.20768
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- Article
Natural genetic variation underlying the negative effect of elevated CO<sub>2</sub> on ionome composition in Arabidopsis thaliana.
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- eLife, 2024, p. 1, doi. 10.7554/eLife.90170
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- Article
Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.
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- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1201, doi. 10.1093/hmg/10.11.1201
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- Article
Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.
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- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1201, doi. 10.1093/hmg/10.11.1201
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- Article
Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy ( SCA7 ).
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- Human Molecular Genetics, 1998, v. 7, n. 2, p. 165, doi. 10.1093/hmg/7.2.165
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- Article
Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families.
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- Human Molecular Genetics, 1997, v. 6, n. 5, p. 709, doi. 10.1093/hmg/6.5.709
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- Article
Survey of CAG/CTG Repeats in Human cDNAs Representing New Genes: Candidates for Inherited Neurological Disorders.
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- Human Molecular Genetics, 1996, v. 5, n. 7, p. 1001, doi. 10.1093/hmg/5.7.1001
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- Article
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
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- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 129, doi. 10.1007/s10545-017-0079-6
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- Article
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
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- Human Mutation, 2011, v. 32, n. 11, p. 1225, doi. 10.1002/humu.21562
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- Article
Epileptic phenotypes in children with respiratory chain disorders.
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- Epilepsia (Series 4), 2010, v. 51, n. 7, p. 1225, doi. 10.1111/j.1528-1167.2009.02504.x
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- Article
Mid-morning Tryptophan Depletion Delays REM Sleep Onset in Healthy Subjects
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- Neuropsychopharmacology, 2002, v. 27, n. 5, p. 843, doi. 10.1016/S0893-133X(02)00358-5
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- Article
Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 937, doi. 10.1002/ajmg.a.62050
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- Article
Stuve-Wiedemann syndrome: Is it underrecognized?
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2200, doi. 10.1002/ajmg.a.36626
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- Article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0119-3
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- Article
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
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- 2014
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- Publication type:
- journal article
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-173
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- Article
Natural history of Barth syndrome: a national cohort study of 22 patients.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-70
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- Article
Natural history of Barth syndrome: a national cohort study of 22 patients.
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- 2013
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- Publication type:
- journal article
Statistical inference of the time-varying structure of gene-regulation networks.
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- BMC Systems Biology, 2010, v. 4, p. 130, doi. 10.1186/1752-0509-4-130
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- Article
Inferring and analyzing gene regulatory networks from multi-factorial expression data: a complete and interactive suite.
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- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-07659-2
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- Article
Non-homogeneous dynamic Bayesian networks with Bayesian regularization for inferring gene regulatory networks with gradually time-varying structure.
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- Machine Learning, 2013, v. 90, n. 2, p. 191, doi. 10.1007/s10994-012-5311-x
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- Article
An Evolution Model for Sequence Length Based on Residue Insertion-Deletion Independent of Substitution: An Application to the GC Content in Bacterial Genomes.
- Published in:
- Bulletin of Mathematical Biology, 2012, v. 74, n. 8, p. 1764, doi. 10.1007/s11538-012-9735-z
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- Article