Found: 17
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The Drosophila SK Channel (dSK) Contributes to Photoreceptor Performance by Mediating Sensitivity Control at the First Visual Network.
- Published in:
- Journal of Neuroscience, 2011, v. 31, n. 39, p. 13897, doi. 10.1523/JNEUROSCI.3134-11.2011
- By:
- Publication type:
- Article
Genomic medicine in the Middle East.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-01003-9
- By:
- Publication type:
- Article
Genetic variation in the Middle East—an opportunity to advance the human genetics field.
- Published in:
- Genome Medicine, 2020, v. 12, n. 1, p. 1, doi. 10.1186/s13073-020-00821-7
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- Publication type:
- Article
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
- Published in:
- Genome Medicine, 2019, v. 12, n. 1, p. 1, doi. 10.1186/s13073-019-0690-2
- By:
- Publication type:
- Article
Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Understanding Genotypes and Phenotypes in Epileptic Encephalopathies.
- Published in:
- Molecular Syndromology, 2016, v. 7, n. 4, p. 172, doi. 10.1159/000448530
- By:
- Publication type:
- Article
Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Roles of the Drosophila SK Channel (dSK) in Courtship Memory.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034665
- By:
- Publication type:
- Article
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss.
- Published in:
- Human Genetics, 2023, v. 142, n. 1, p. 33, doi. 10.1007/s00439-022-02479-0
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- Publication type:
- Article
Democratizing Molecular Diagnostics for the Developing World.
- Published in:
- American Journal of Clinical Pathology, 2014, v. 141, n. 1, p. 17, doi. 10.1309/AJCPA1L4KPXBJNPG
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- Publication type:
- Article
Elevated ASCL1 activity creates de novo regulatory elements associated with neuronal differentiation.
- Published in:
- BMC Genomics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12864-022-08495-8
- By:
- Publication type:
- Article
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.
- Published in:
- Clinical Chemistry, 2018, v. 64, n. 4, p. 705, doi. 10.1373/clinchem.2017.280685
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- Publication type:
- Article
A Comprehensive Assay for CFTR Mutational Analysis Using Next-Generation Sequencing.
- Published in:
- Clinical Chemistry, 2013, v. 59, n. 10, p. 1481, doi. 10.1373/clinchem.2013.206466
- By:
- Publication type:
- Article
A mutation update for the PCDH19 gene causing early‐onset epilepsy in females with an unusual expression pattern.
- Published in:
- Human Mutation, 2019, v. 40, n. 3, p. 243, doi. 10.1002/humu.23701
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- Publication type:
- Article
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
- Published in:
- Human Mutation, 2018, v. 39, n. 11, p. 1517, doi. 10.1002/humu.23626
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- Publication type:
- Article
Targeted Droplet-Digital PCR as a Tool for Novel Deletion Discovery at the DFNB1 Locus.
- Published in:
- Human Mutation, 2016, v. 37, n. 1, p. 119, doi. 10.1002/humu.22912
- By:
- Publication type:
- Article
Comprehensive Genomic Sequencing–Based Screening for Hearing Loss in the Neonatal Intensive Care Setting—Is It Time?
- Published in:
- 2022
- By:
- Publication type:
- Opinion