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Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies
Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies
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Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies

Massara, Lucía S. ; Delea, Marisol ; Espeche, Lucía ; Bruque, Carlos D. ; Oliveri, Jaen ; Brun, Paloma ; Furforo, Lilian ; Dain, Liliana ; Rozental, Sandra

Cytogenetic and genome research, 2019-01, Vol.159 (3), p.137-142 [Periódico revisado por pares]

Basel, Switzerland

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2
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory
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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory

Petersen, Andrea K. ; Cheung, Sau Wai ; Smith, Janice L. ; Bi, Weimin ; Ward, Patricia A. ; Peacock, Sandra ; Braxton, Alicia ; Van Den Veyver, Ignatia B. ; Breman, Amy M.

American journal of obstetrics and gynecology, 2017-12, Vol.217 (6), p.691.e1-691.e6 [Periódico revisado por pares]

United States: Elsevier Inc

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3
Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China
Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China
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Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern China

Yang, Jiexia ; Hou, Yaping ; Guo, Fangfang ; Peng, Haishan ; Wang, Dongmei ; Li, Yi ; OY, Haoxin ; Wang, Yixia ; Lu, Jian ; Yin, Aihua

Journal of assisted reproduction and genetics, 2021-03, Vol.38 (3), p.727-734 [Periódico revisado por pares]

New York: Springer US

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4
Synthetic Antigen Gels as Practical Controls for Standardized and Quantitative Immunohistochemistry
Synthetic Antigen Gels as Practical Controls for Standardized and Quantitative Immunohistochemistry
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Synthetic Antigen Gels as Practical Controls for Standardized and Quantitative Immunohistochemistry

Hötzel, Kathy J. ; Havnar, Charles A. ; Ngu, Hai V. ; Rost, Sandra ; Liu, Scot D. ; Rangell, Linda K. ; Peale, Franklin V.

The journal of histochemistry and cytochemistry, 2019-05, Vol.67 (5), p.309-334 [Periódico revisado por pares]

Los Angeles, CA: SAGE Publications

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5
Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands
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Array analysis and karyotyping: Workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

Hochstenbach, Ron ; van Binsbergen, Ellen ; Engelen, John ; Nieuwint, Aggie ; Polstra, Abeltje ; Poddighe, Pino ; Ruivenkamp, Claudia ; Sikkema-Raddatz, Birgit ; Smeets, Dominique ; Poot, Martin

European journal of medical genetics, 2009-07, Vol.52 (4), p.161-169 [Periódico revisado por pares]

Amsterdam: Elsevier Masson SAS

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6
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review
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Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review

Liu, Siping ; Yang, Fang ; Chang, Qingxian ; Jia, Bei ; Xu, Yushuang ; Wu, Ruifeng ; Li, Liyan ; Chen, Weishan ; Yin, Ailan ; Huang, Fodi ; Feng, Suxin ; Li, Fenxia

Molecular cytogenetics, 2022-07, Vol.15 (1), p.1-29, Article 29 [Periódico revisado por pares]

London: BioMed Central Ltd

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7
Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center
Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center
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Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center

Wu, Xiaoqing ; Guo, Danhua ; Li, Ying ; Xie, Xiaorui ; Su, Linjuan ; Cai, Meiying ; Zheng, Lin ; Lin, Na ; Liang, Bin ; Huang, Hailong ; Xu, Liangpu

Journal of perinatal medicine, 2023-09, Vol.51 (7), p.904-912 [Periódico revisado por pares]

Germany: De Gruyter

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8
Relative expression of vascular endothelial growth factor isoforms in squamous cell carcinoma of the head and neck
Relative expression of vascular endothelial growth factor isoforms in squamous cell carcinoma of the head and neck
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Relative expression of vascular endothelial growth factor isoforms in squamous cell carcinoma of the head and neck

Wilkie, Mark D. ; Emmett, Maxine S. ; Santosh, Shilpa ; Lightbody, Kathryn A. ; Lane, Steven ; Goodyear, Paul W. ; Sheard, Jon D. ; Boyd, Mark T. ; Pritchard-Jones, Rowan O. ; Jones, Terence M.

Head & neck, 2016-05, Vol.38 (5), p.775-781 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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9
Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication
Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication
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Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication

Tian, Weifang ; Yuan, Yangyang ; Yuan, Erfeng ; Zhang, Linlin ; Liu, Ling ; Li, Ying ; Guo, Jing ; Cui, Xueyin ; Li, Pengyun ; Cui, Shihong

European journal of medical research, 2023-08, Vol.28 (1), p.1-304, Article 304 [Periódico revisado por pares]

London: BioMed Central Ltd

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10
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes
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The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes

Shaffer, Lisa G. ; Coppinger, Justine ; Morton, S. Annie ; Alliman, Sarah ; Burleson, Jessica ; Traylor, Ryan ; Walker, Cathryn ; Byerly, Steve ; Lamb, Allen N. ; Schultz, Roger ; Ravnan, J. Britt ; Kashork, Catherine D. ; Torchia, Beth S. ; Sulpizio, Scott ; Sundin, Kyle ; Schermer, Mack ; Adler, Karl ; Dallaire, Stephanie ; Ballif, Blake C.

Prenatal diagnosis, 2011-08, Vol.31 (8), p.778-787 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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