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Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

• Authors : Na Ma; Zhenhua Zhu; Jiancheng Hu

Subjects: karyotype; copy number variation sequencing; non-invasive prenatal testing

• Source: Frontiers in Genetics, Vol 14 (2023)

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Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods.

• Authors : Hollands, Gareth J.¹; Armstrong, David²; Macfarlane, Angela¹

• Source: BMC Medical Genetics. 2012, Vol. 13 Issue 1, p87-95. 9p. 1 Chart.

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Image3_Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases.JPEG

• Authors : Na Ma; Zhenhua Zhu; Jiancheng Hu

Subjects: Genetics; Genetic Engineering; Biomarkers

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Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center

• Authors : Wicharn Choktanasiri; Objoon Trachoo; Chonthicha Satirapod

Subjects: Oncology; Male; Embryology

• Source: PLoS ONEPLoS ONE, Vol 14, Iss 11, p e0225457 (2019)

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Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

• Authors : Pritzlaff, Mary; Summerour, Pia; McFarland, Rachel

Subjects: Adult; Aged; Aged

• Source: Breast cancer research and treatment. 161(3)

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Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean

• Authors : Verberne, Eline A; Westermann, Jonne M; de Vries, Tamar I ...

Subjects: Caribbean Region/epidemiology; Child; DNA Copy Number Variations

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European guidelines for constitutional cytogenomic analysis

• Authors : Silva, Marisa; de Leeuw, Nicole; Mann, Kathy ...

Subjects: Cytogenetic Analysis/methods; European Union; Genetic Testing/methods

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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

• Authors : Keavney, Bernard; Tomaszewski, Maciej; Morris, Andrew

Subjects: Adult; Aged; 80 and over

• Source: Keavney , B , Tomaszewski , M , Morris , A & et al 2018 , ' Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits ' ,

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Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

• Authors : Nadine Hanna; Tiffany Busa; Mélodie Aubart ...

Subjects: Male; Proband; class 4 and 5 variants

• Source: Genetics in MedicineGenetics in Medicine, 2019, 21 (9), pp.2015-2024. ⟨10.1038/s41436-019-0444-y⟩

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NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges

• Authors : Thierry Kuntzer; Jean-Marc Good; Mayte Castro Jiménez

Subjects: 0301 basic medicine; Pediatrics; medicine.medical_specialty

• Source: Genes, Vol 12, Iss 695, p 695 (2021)Genes, vol. 12, no. 5, pp. 695Genes

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