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Normal Values for the fT3/fT4 Ratio: Centile Charts (0–29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8585, doi. 10.3390/ijms25168585
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- Publication type:
- Article
Periodic catatonia: confirmation of linkage to chromosome 15 and further evidence for genetic heterogeneity.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 323, doi. 10.1007/s00439-002-0805-4
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- Publication type:
- Article
GrabBlur - a framework to facilitate the secure exchange of whole-exome and -genome SNV data using VCF files.
- Published in:
- BMC Genomics, 2014, v. 15, p. 1, doi. 10.1186/1471-2164-15-S4-S8
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- Publication type:
- Article
The 22nd annual Nucleic Acids Research Web Server Issue 2024.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. W1, p. W1, doi. 10.1093/nar/gkae492
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- Publication type:
- Article
REEV: review, evaluate and explain variants.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. W1, p. W148, doi. 10.1093/nar/gkae366
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- Publication type:
- Article
Drawing human pedigree charts with DrawPed.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. W1, p. W61, doi. 10.1093/nar/gkae336
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- Publication type:
- Article
Editorial: the 21st annual Nucleic Acids Research Web Server Issue 2023.
- Published in:
- 2023
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- Publication type:
- Editorial
Novel sequencing technologies and bioinformatic tools for deciphering the non-coding genome.
- Published in:
- Medizinische Genetik, 2021, v. 33, n. 2, p. 133, doi. 10.1515/medgen-2021-2072
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- Publication type:
- Article
Public data sources for regulatory genomic features.
- Published in:
- Medizinische Genetik, 2021, v. 33, n. 2, p. 167, doi. 10.1515/medgen-2021-2075
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- Publication type:
- Article
FragIdent -- Automatic identification and characterisation of cDNA-fragments.
- Published in:
- BMC Genomics, 2009, v. 10, p. 1, doi. 10.1186/1471-2164-10-95
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- Publication type:
- Article
RegEl corpus: identifying DNA regulatory elements in the scientific literature.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2022, v. 2022, p. 1, doi. 10.1093/database/baac043
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- Publication type:
- Article
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 1018, doi. 10.1038/ng2072
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- Publication type:
- Article
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
- Published in:
- Nature Genetics, 2006, v. 38, n. 12, p. 1397, doi. 10.1038/ng1918
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- Publication type:
- Article
A systematic, large-scale comparison of transcription factor binding site models.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-2729-8
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- Publication type:
- Article
Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 3, p. 1, doi. 10.1371/journal.pgen.1000874
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- Publication type:
- Article
A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 1, p. 1, doi. 10.1371/journal.pgen.1000353
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- Publication type:
- Article
Phenotero: Annotate as you write.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 287, doi. 10.1111/cge.13471
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- Publication type:
- Article
d-matrix -- database exploration, visualization and analysis.
- Published in:
- BMC Bioinformatics, 2004, v. 5, p. 168, doi. 10.1186/1471-2105-5-168
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- Publication type:
- Article
Systematic Comparison of Three Methods for Fragmentation of Long-Range PCR Products for Next Generation Sequencing.
- Published in:
- PLoS ONE, 2011, v. 6, n. 11, p. 1, doi. 10.1371/journal.pone.0028240
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- Publication type:
- Article
GeneDistiller--Distilling Candidate Genes from Linkage Intervals.
- Published in:
- PLoS ONE, 2008, v. 3, n. 12, p. 1, doi. 10.1371/journal.pone.0003874
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- Publication type:
- Article
GA4GH Phenopackets: A Practical Introduction.
- Published in:
- Advanced Genetics, 2023, v. 4, n. 1, p. 1, doi. 10.1002/ggn2.202200016
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- Publication type:
- Article
Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
- Published in:
- Human Genetics, 2024, v. 143, n. 5, p. 683, doi. 10.1007/s00439-024-02669-y
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- Publication type:
- Article
MutationTaster2: mutation prediction for the deep-sequencing age.
- Published in:
- Nature Methods, 2014, v. 11, n. 4, p. 361, doi. 10.1038/nmeth.2890
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- Publication type:
- Article
MutationTaster evaluates disease-causing potential of sequence alterations.
- Published in:
- 2010
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- Publication type:
- Letter
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
- Published in:
- 2010
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- Publication type:
- journal article
SIGLEC1 (CD169): a marker of active neuroinflammation in the brain but not in the blood of multiple sclerosis patients.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89786-0
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- Publication type:
- Article
FABIAN-variant: predicting the effects of DNA variants on transcription factor binding.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. W1, p. W322, doi. 10.1093/nar/gkac393
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- Publication type:
- Article
Deep phenotyping: symptom annotation made simple with SAMS.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. W1, p. W677, doi. 10.1093/nar/gkac329
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- Publication type:
- Article
AutozygosityMapper: Identification of disease-mutations in consanguineous families.
- Published in:
- Nucleic Acids Research, 2022, v. 50, n. W1, p. W83, doi. 10.1093/nar/gkac280
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- Publication type:
- Article
Aviator: a web service for monitoring the availability of web services.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. W1, p. W46, doi. 10.1093/nar/gkab396
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- Publication type:
- Article
MutationTaster2021.
- Published in:
- Nucleic Acids Research, 2021, v. 49, n. W1, p. W446, doi. 10.1093/nar/gkab266
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- Publication type:
- Article
VarFish: comprehensive DNA variant analysis for diagnostics and research.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. W1, p. W162, doi. 10.1093/nar/gkaa241
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- Publication type:
- Article
Pervasive and CpG-dependent promoter-like characteristics of transcribed enhancers.
- Published in:
- Nucleic Acids Research, 2020, v. 48, n. 10, p. 5306, doi. 10.1093/nar/gkaa223
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- Publication type:
- Article
MutationDistiller: user-driven identification of pathogenic DNA variants.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. W1, p. W114, doi. 10.1093/nar/gkz330
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- Publication type:
- Article
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.
- Published in:
- Nucleic Acids Research, 2019, v. 47, n. W1, p. W106, doi. 10.1093/nar/gkz327
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- Publication type:
- Article
HomozygosityMapper2012—bridging the gap between homozygosity mapping and deep sequencing.
- Published in:
- Nucleic Acids Research, 2012, v. 40, p. W516, doi. 10.1093/nar/gks487
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- Publication type:
- Article
AssociationDB: web-based exploration of genomic association.
- Published in:
- Bioinformatics, 2007, v. 23, n. 19, p. 2643, doi. 10.1093/bioinformatics/btm376
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- Publication type:
- Article
HomozygosityMapper—an interactive approach to homozygosity mapping.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. suppl_2, p. W593, doi. 10.1093/nar/gkp369
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- Publication type:
- Article
Discovery of a non-canonical GRHL1 binding site using deep convolutional and recurrent neural networks.
- Published in:
- BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09830-3
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- Publication type:
- Article