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Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study

PloS one, 2016-04, Vol.11 (4), p.e0153147-e0153147

2016

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Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?

Current genomics, 2010-09, Vol.11 (6), p.409-419

2010

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Quantification of cell-free DNA in normal and complicated pregnancies: overcoming biological and technical issues

PloS one, 2014-07, Vol.9 (7), p.e101500-e101500

2014

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Radiation-Induced Chromosomal Breaks may be DNA Repair Fragile Sites with Larger-scale Correlations to Eight Double-Strand-Break Related Data Sets over the Human Genome

Radiation research, 2019-11, Vol.192 (5), p.562

2019

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An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing

PloS one, 2016-07, Vol.11 (7), p.e0159648-e0159648

2016

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Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 Pregnancies

PloS one, 2016-12, Vol.11 (12), p.e0166909-e0166909

2016

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Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome

Molecular cytogenetics, 2015-08, Vol.8 (1), p.67-67, Article 67

2015

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An Advanced Model to Precisely Estimate the Cell-Free Fetal DNA Concentration in Maternal Plasma

PloS one, 2016-09, Vol.11 (9), p.e0161928-e0161928

2016

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Workshop report on the extraction of foetal DNA from maternal plasma

Prenatal diagnosis, 2007-09, Vol.27 (9), p.824-829

2007

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High Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions

PloS one, 2016-06, Vol.11 (6), p.e0153182-e0153182

2016

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Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

Nature (London), 1999-11, Vol.402 (6758), p.187-191

1999

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On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model

Reproduction (Cambridge, England), 2010-01, Vol.139 (1), p.1-9

2010

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Nuclear Weapons Tests and Human Germline Mutation Rate

Science (American Association for the Advancement of Science), 2002-02, Vol.295 (5557), p.1037-1037

2002

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Altered patterns of meiotic recombination in human fetal oocytes with asynapsis and/or synaptonemal complex fragmentation at pachytene

Reproductive biomedicine online, 2006-07, Vol.13 (1), p.88-95

2006

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Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese

Clinical chemistry and laboratory medicine, 2009-10, Vol.47 (10), p.1239-1245

2009

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On the origin of crossover interference: A chromosome oscillatory movement (COM) model

Molecular cytogenetics, 2011-04, Vol.4 (1), p.10-10

Hulten, MA

2011

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On the origin of trisomy 21 Down syndrome

Molecular cytogenetics, 2008-09, Vol.1 (1), p.21-21

2008

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Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR

Reproduction (Cambridge, England), 2003-09, Vol.126 (3), p.279-297

2003

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Ricardo Benavente and Jean-Nicolas Volff: Meiosis: Karger, 2009, HB, 159 pages, 191.50€, ISBN 978-3-8055-8967-3

Human Genetics, 2009-09, Vol.126 (3), p.475-478

Hulten, Maj

2009

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Guidelines for reporting clinical features in cases with MECP2 mutations

Brain & development (Tokyo. 1979), 2001-07, Vol.23 (4), p.208-211

2001

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Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome

Reproductive biomedicine online, 2007, Vol.15 (2), p.227-235

2007

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Community Genetic Services in Iran

Genetics Research International, 2012-01, Vol.2012 (2012), p.1-4

2012

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Feature representation and signal classification in fluorescence in-situ hybridization image analysis

IEEE transactions on systems, man and cybernetics. Part A, Systems and humans, 2001-11, Vol.31 (6), p.655-665

2001

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Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

European journal of human genetics : EJHG, 2010-09, Vol.18 (9), p.972-977

2010

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Maternal Germinal Trisomy 21 in Down Syndrome

Journal of clinical medicine, 2014-01, Vol.3 (1), p.167-175

2014

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Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study

Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?

Quantification of cell-free DNA in normal and complicated pregnancies: overcoming biological and technical issues

Radiation-Induced Chromosomal Breaks may be DNA Repair Fragile Sites with Larger-scale Correlations to Eight Double-Strand-Break Related Data Sets over the Human Genome

An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing

Pregnancy Outcome following Prenatal Diagnosis of Chromosomal Anomaly: A Record Linkage Study of 26,261 Pregnancies

Disomy 21 in spermatozoa and the paternal origin of trisomy 21 Down syndrome

An Advanced Model to Precisely Estimate the Cell-Free Fetal DNA Concentration in Maternal Plasma

Workshop report on the extraction of foetal DNA from maternal plasma

High Levels of Sample-to-Sample Variation Confound Data Analysis for Non-Invasive Prenatal Screening of Fetal Microdeletions

Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene

On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model

Nuclear Weapons Tests and Human Germline Mutation Rate

Altered patterns of meiotic recombination in human fetal oocytes with asynapsis and/or synaptonemal complex fragmentation at pachytene

Novel rare alleles of ABCA1 are exclusively associated with extreme high-density lipoprotein-cholesterol levels among the Han Chinese

On the origin of crossover interference: A chromosome oscillatory movement (COM) model

On the origin of trisomy 21 Down syndrome

Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR

Ricardo Benavente and Jean-Nicolas Volff: Meiosis: Karger, 2009, HB, 159 pages, 191.50€, ISBN 978-3-8055-8967-3

Guidelines for reporting clinical features in cases with MECP2 mutations

Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome

Community Genetic Services in Iran

Feature representation and signal classification in fluorescence in-situ hybridization image analysis

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

Maternal Germinal Trisomy 21 in Down Syndrome

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