Found: 14
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Correction to: Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.
- Published in:
- 2021
- By:
- Publication type:
- Correction Notice
KDM5A mutations identified in autism spectrum disorder using forward genetics.
- Published in:
- eLife, 2020, p. 1, doi. 10.7554/eLife.56883
- By:
- Publication type:
- Article
Biological and nutrient responses to catchment disturbance and warming in small lakes near the Alaskan tundra–taiga boundary.
- Published in:
- Holocene, 2014, v. 24, n. 10, p. 1308, doi. 10.1177/0959683614540955
- By:
- Publication type:
- Article
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 288, doi. 10.1111/cge.14262
- By:
- Publication type:
- Article
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability.
- Published in:
- BMC Genomics, 2017, v. 18, p. 1, doi. 10.1186/s12864-017-3671-0
- By:
- Publication type:
- Article
Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data.
- Published in:
- GigaScience, 2019, v. 8, n. 7, p. N.PAG, doi. 10.1093/gigascience/giz074
- By:
- Publication type:
- Article
Genome-wide Sequencing Identified Rare Genetic Variants for Childhood-onset Monogenic Lupus.
- Published in:
- Journal of Rheumatology, 2023, v. 50, n. 5, p. 671, doi. 10.3899/jrheum.220513
- By:
- Publication type:
- Article
Hemophagocytic Lymphohistiocytosis Gene Variants in Childhood-Onset Systemic Lupus Erythematosus With Macrophage Activation Syndrome.
- Published in:
- Journal of Rheumatology, 2022, v. 40, n. 10, p. 1146, doi. 10.3899/jrheum.211200
- By:
- Publication type:
- Article
Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery.
- Published in:
- Human Mutation, 2022, v. 43, n. 6, p. 800, doi. 10.1002/humu.24354
- By:
- Publication type:
- Article
Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63522
- By:
- Publication type:
- Article
RNA sequencing reveals deep intronic CEP120 variant: A report of the diagnostic odyssey for two siblings with Joubert syndrome type 31.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63485
- By:
- Publication type:
- Article
Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63466
- By:
- Publication type:
- Article
RNA sequencing to support intronic variant interpretation: A case report of TRAPPC12‐related disorder.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 6, p. 1664, doi. 10.1002/ajmg.a.63184
- By:
- Publication type:
- Article
RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2247
- By:
- Publication type:
- Article