Found: 11
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Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling.
- Published in:
- Journal of Genetic Counseling, 2015, v. 24, n. 4, p. 654, doi. 10.1007/s10897-014-9794-4
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- Article
Genetic Counselors' Views and Experiences with the Clinical Integration of Genome Sequencing.
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- Journal of Genetic Counseling, 2014, v. 23, n. 4, p. 496, doi. 10.1007/s10897-014-9709-4
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- Article
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing.
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- JAMA: Journal of the American Medical Association, 2014, v. 312, n. 18, p. 1869, doi. 10.1001/jama.2014.14601
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- Article
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0658-2
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- Article
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0639-5
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- Article
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
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- Genome Medicine, 2018, v. 10, n. 1, p. 1, doi. 10.1186/s13073-018-0582-x
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- Article
Use of Exome Sequencing for Infants in Intensive Care Units Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
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- JAMA Pediatrics, 2017, v. 171, n. 12, p. 1, doi. 10.1001/jamapediatrics.2017.3438
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- Article
Two de novo novel mutations in one <italic>SHANK3</italic> allele in a patient with autism and moderate intellectual disability.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 973, doi. 10.1002/ajmg.a.38622
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- Article
Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 891, doi. 10.1002/ajmg.a.37491
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- Article
Inhibition of complement C3 prevents osteoarthritis progression in guinea pigs by blocking STAT1 activation.
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- Communications Biology, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s42003-024-06051-6
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- Article
Intraparenchymal metastases as a cause for local recurrence of pancreatic cancer.
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- Histopathology, 2023, v. 82, n. 3, p. 504, doi. 10.1111/his.14839
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- Article