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  • 1-10 ل  58 نتائج ل ""Genetic Testing/methods""

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Subject : genetics (clinical)
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Case report: Detection of fetal trisomy 9 mosaicism by multiple genetic testing methods: Report of two cases

Subjects: Genetics; Molecular Medicine; Genetics (clinical)

  • Source: Frontiers in Genetics. 14

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

Subjects: Adult; Male; Risk

  • Source: BMC Medical Genetics, Vol 13, Iss 1, p 87 (2012)BMC Medical Genetics

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Noninvasive prenatal screening for cystic fibrosis using circulating trophoblasts:Detection of the 50 most common disease-causing variants

Subjects: Fetus; Pregnancy; Prenatal Diagnosis/methods

  • Source: Jeppesen, L D, Lildballe, D L, Hatt, L, Hedegaard, J, Singh, R, Toft, C L F, Schelde, P, Pedersen, A S, Knudsen, M & Vogel, I 2023, ' Noninvasive prenatal screening for cystic fibrosis using

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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)

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

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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Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study

Subjects: 0301 basic medicine; CVS MOSAICISM; FETAL DNA

  • Source: Genetics in Medicine, 20, 480-485Genetics in MedicineGenetics in Medicine, 20(5), 480-485. Nature Publishing GroupGenetics in medicine, 20(5), 480-485. Lippincott Williams and

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A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Subjects: Male; 0301 basic medicine; lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]

  • Source: European Journal of Human Genetics, 26(1), 54. Nature Publishing GroupEuropean Journal of Human Genetics, 26(1), 54-63. Nature Publishing GroupEuropean Journal of Human Genetics, 26,

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TRIDENT-2: National Implementation of Genome-Wide Non-Invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

Subjects: 0301 basic medicine; Trisomy 13 Syndrome; IMPACT

  • Source: American Journal of Human Genetics, 105(6), 1091-1101. CELL PRESSAmerican Journal of Human Genetics, 105, 6, pp. 1091-1101American journal of human genetics, 105(6), 1091-1101. Cell

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Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar

Subjects: Genetic testing; Calcium Channels, L-Type; Computer science

  • Source: European Journal of Human GeneticsSallah, S R, Sergouniotis, P I, Barton, S, Ramsden, S, Taylor, R L, Safadi, A, Kabir, M, Ellingford, J M, Lench, N, Lovell, S C & Black, G C M 2020, ' Using an

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Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

Subjects: Adult; 0301 basic medicine; DNA Copy Number Variations

  • Source: Genetics in medicine

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  • 1-10 ل  58 نتائج ل ""Genetic Testing/methods""