Found: 9
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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
- Published in:
- Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0606-6
- By:
- Publication type:
- Article
Two Alleles of NF-κB in the Sea Anemone Nematostella vectensis Are Widely Dispersed in Nature and Encode Proteins with Distinct Activities.
- Published in:
- PLoS ONE, 2009, v. 4, n. 10, p. 1, doi. 10.1371/journal.pone.0007311
- By:
- Publication type:
- Article
Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 387, doi. 10.1007/s00439-021-02365-1
- By:
- Publication type:
- Article
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
- Published in:
- JAMA Neurology, 2022, v. 79, n. 4, p. 405, doi. 10.1001/jamaneurol.2022.0067
- By:
- Publication type:
- Article
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82050-5
- By:
- Publication type:
- Article
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00578
- By:
- Publication type:
- Article
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 523, doi. 10.1093/hmg/ddab257
- By:
- Publication type:
- Article
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 7, p. e2324380, doi. 10.1001/jamanetworkopen.2023.24380
- By:
- Publication type:
- Article