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Genome‐wide genetic screen identifies host ubiquitination as important for Legionella pneumophila Dot/Icm effector translocation.
- Published in:
- Cellular Microbiology, 2021, v. 23, n. 10, p. 1, doi. 10.1111/cmi.13368
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- Publication type:
- Article
Atypical development of Broca's area in a large family with inherited stuttering.
- Published in:
- 2022
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- Publication type:
- journal article
Dorsal language stream anomalies in an inherited speech disorder.
- Published in:
- 2019
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- Publication type:
- journal article
Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 21, p. 7965, doi. 10.3390/ijms21217965
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- Publication type:
- Article
PacBio long-read amplicon sequencing enables scalable high-resolution population allele typing of the complex CYP2D6 locus.
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- Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03102-8
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- Publication type:
- Article
Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00848-4
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- Publication type:
- Article
Mitochondrial Genome Sequence of the Scabies Mite Provides Insight into the Genetic Diversity of Individual Scabies Infections.
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- PLoS Neglected Tropical Diseases, 2016, v. 10, n. 2, p. 1, doi. 10.1371/journal.pntd.0004384
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- Publication type:
- Article
Plasmodium vivax Populations Are More Genetically Diverse and Less Structured than Sympatric Plasmodium falciparum Populations.
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- PLoS Neglected Tropical Diseases, 2015, v. 9, n. 4, p. 1, doi. 10.1371/journal.pntd.0003634
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- Publication type:
- Article
Plasmodium vivax Populations Are More Genetically Diverse and Less Structured than Sympatric Plasmodium falciparum Populations.
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- PLoS Neglected Tropical Diseases, 2015, v. 9, n. 4, p. 1, doi. 10.1371/journal.pntd.0003634
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- Publication type:
- Article
Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2941, doi. 10.1002/ajmg.a.62377
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- Publication type:
- Article
Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 230, doi. 10.1002/ajmg.a.38549
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- Publication type:
- Article
Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2321, doi. 10.1002/ajmg.a.36055
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- Publication type:
- Article
An α-E-catenin ( CTNNA1) mutation in hereditary diffuse gastric cancer.
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- Journal of Pathology, 2013, v. 229, n. 4, p. 621, doi. 10.1002/path.4152
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- Publication type:
- Article
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
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- Nature Genetics, 2014, v. 46, n. 11, p. 1239, doi. 10.1038/ng.3103
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- Publication type:
- Article
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.
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- Nature Genetics, 2012, v. 44, n. 11, p. 1188, doi. 10.1038/ng.2440
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- Publication type:
- Article
IL28B is associated with response to chronic hepatitis C interferon-α and ribavirin therapy.
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- Nature Genetics, 2009, v. 41, n. 10, p. 1100, doi. 10.1038/ng.447
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- Publication type:
- Article
Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20.
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- Nature Genetics, 2009, v. 41, n. 7, p. 824, doi. 10.1038/ng.396
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- Publication type:
- Article
A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss.
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- Laryngoscope, 2010, v. 120, n. 12, p. 2489, doi. 10.1002/lary.21159
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- Publication type:
- Article
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.
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- Laryngoscope, 2009, v. 119, n. 4, p. 727, doi. 10.1002/lary.20116
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- Publication type:
- Article
Cochlear Implants for DFNA17 Deafness.
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- Laryngoscope, 2006, v. 116, n. 12, p. 2211, doi. 10.1097/01.mlg.0000242089.72880.f8
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- Publication type:
- Article
SNP barcodes provide higher resolution than microsatellite markers to measure Plasmodium vivax population genetics.
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- Malaria Journal, 2020, v. 19, n. 1, p. 1, doi. 10.1186/s12936-020-03440-0
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- Publication type:
- Article
Identity-by-descent analyses for measuring population dynamics and selection in recombining pathogens.
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- PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007279
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- Publication type:
- Article
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
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- PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007281
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- Publication type:
- Article
Early neuroimaging markers of FOXP2 intragenic deletion.
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- Scientific Reports, 2016, p. 35192, doi. 10.1038/srep35192
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- Publication type:
- Article
Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes.
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- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0102079
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- Publication type:
- Article
Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086993
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- Publication type:
- Article
A Mutation in Synaptojanin 2 Causes Progressive Hearing Loss in the ENU-Mutagenised Mouse Strain Mozart.
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- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017607
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- Publication type:
- Article
A Polymorphism in the HLA-DPB1 Gene Is Associated with Susceptibility to Multiple Sclerosis.
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- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0013454
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- Publication type:
- Article
Multiple Sclerosis Susceptibility-Associated SNPs Do Not Influence Disease Severity Measures in a Cohort of Australian MS Patients.
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- PLoS ONE, 2010, v. 5, n. 4, p. 1, doi. 10.1371/journal.pone.0010003
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- Publication type:
- Article
Evaluation of non-coding variation in GLUT1 deficiency.
- Published in:
- 2016
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- Publication type:
- journal article
Using familial information for variant filtering in high-throughput sequencing studies.
- Published in:
- Human Genetics, 2014, v. 133, n. 11, p. 1331, doi. 10.1007/s00439-014-1479-4
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- Publication type:
- Article
Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand.
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- Human Genetics, 2010, v. 128, n. 1, p. 39, doi. 10.1007/s00439-010-0821-8
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- Publication type:
- Article
The advantages of dense marker sets for linkage analysis with very large families.
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- Human Genetics, 2007, v. 121, n. 3/4, p. 459, doi. 10.1007/s00439-007-0323-5
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- Publication type:
- Article
Detecting genome wide haplotype sharing using SNP or microsatellite haplotype data.
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- Human Genetics, 2006, v. 119, n. 1/2, p. 38, doi. 10.1007/s00439-005-0114-9
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- Publication type:
- Article
On the utility of data from the International HapMap Project for Australian association studies.
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- Human Genetics, 2006, v. 119, n. 1/2, p. 220, doi. 10.1007/s00439-005-0120-y
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- Publication type:
- Article
Identifying nineteenth century genealogical links from genotypes.
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- Human Genetics, 2005, v. 117, n. 2/3, p. 188, doi. 10.1007/s00439-005-1279-y
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- Publication type:
- Article
Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis.
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- Human Genetics, 2004, v. 114, n. 6, p. 573, doi. 10.1007/s00439-004-1095-9
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- Publication type:
- Article
Increasingly inbred and fragmented populations of Plasmodium vivax associated with the eastward decline in malaria transmission across the Southwest Pacific.
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- PLoS Neglected Tropical Diseases, 2018, v. 12, n. 1, p. 1, doi. 10.1371/journal.pntd.0006146
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- Publication type:
- Article
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.
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- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 486, doi. 10.1038/ejhg.2014.130
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- Publication type:
- Article
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 741, doi. 10.1038/ejhg.2013.229
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- Publication type:
- Article
Spatial distribution of metabolites in the retina and its relevance to studies of metabolic retinal disorders.
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- Metabolomics, 2023, v. 19, n. 2, p. 1, doi. 10.1007/s11306-022-01969-6
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- Publication type:
- Article
ACa<sub>v</sub>3.2 T-Type Calcium Channel Point Mutation Has Splice-Variant-Specific Effects on Function and Segregates with Seizure Expression in a Polygenic Rat Model of Absence Epilepsy.
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- Journal of Neuroscience, 2009, v. 29, n. 2, p. 371, doi. 10.1523/JNEUROSCI.5295-08.2009
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- Publication type:
- Article
Systematic noise degrades gene co-expression signals but can be corrected.
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- BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0745-3
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- Article
Global diversity and balancing selection of 23 leading Plasmodium falciparum candidate vaccine antigens.
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- PLoS Computational Biology, 2022, v. 18, n. 2, p. 1, doi. 10.1371/journal.pcbi.1009801
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- Publication type:
- Article
Eukaryote-Conserved Methylarginine Is Absent in Diplomonads and Functionally Compensated in Giardia.
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- Molecular Biology & Evolution, 2020, v. 37, n. 12, p. 3525, doi. 10.1093/molbev/msaa186
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- Publication type:
- Article
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01788-w
- By:
- Publication type:
- Article
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report.
- Published in:
- Epilepsia Open, 2024, v. 9, n. 2, p. 758, doi. 10.1002/epi4.12887
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- Publication type:
- Article
Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
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- Epilepsia Open, 2022, v. 7, n. 1, p. 170, doi. 10.1002/epi4.12553
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- Publication type:
- Article
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.
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- Epilepsia Open, 2019, v. 4, n. 3, p. 504, doi. 10.1002/epi4.12350
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- Publication type:
- Article