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Motives and considerations regarding PGT in couples carrying a structural chromosomal abnormality: a qualitative exploration

Journal of assisted reproduction and genetics, 2020-07, Vol.37 (7), p.1719-1727

2020

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EP04.12: Perinatal features of Smith‐Lemli‐Opitz Syndrome

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.251-252

2019

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Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD

Human reproduction (Oxford), 2015-02, Vol.30 (2), p.484-489

2015

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P05.10: Using whole‐exome sequencing in prenatal diagnosis of severe fetal abnormalities

Ultrasound in obstetrics & gynecology, 2018-10, Vol.52 (S1), p.155-155

2018

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VP13.07: Prenatal recurrence of artrogryposis

Ultrasound in obstetrics & gynecology, 2020-10, Vol.56 (S1), p.103-103

2020

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The cognitive and socio-emotional development of 5-year-old children born after PGD

Human reproduction (Oxford), 2018-11, Vol.33 (11), p.2150-2157

2018

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Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

Cytogenetic and genome research, 2011-01, Vol.135 (3-4), p.251-259

2011

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P02.04: Diagnosis of Herlyn–Werner–Wunderlich as a result of fetal anomalies in the second trimester scan

Ultrasound in obstetrics & gynecology, 2018-10, Vol.52 (S1), p.142-142

2018

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P14.02: Ultrasound features in a case of Williams‐Beuren syndrome at second trimester scan

Ultrasound in obstetrics & gynecology, 2015-09, Vol.46 (S1), p.164-165

2015

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Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

Netherlands heart journal, 2011-08, Vol.19 (7-8), p.344-351

2011

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Real-Time Monitoring and Point-of-Care Testing: A Review of the Current Landscape of PrEP Adherence Monitoring

Patient preference and adherence, 2021-01, Vol.15, p.259-269

2021

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Exercise related ventricular arrhythmias are related to cardiac fibrosis in hypertrophic cardiomyopathy mutation carriers

Netherlands heart journal, 2011-04, Vol.19 (4), p.168-174

2011

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Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

Clinical genetics, 2004-10, Vol.66 (4), p.318-326

2004

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Subtelomeric chromosome aberrations: still a lot to learn

Clinical genetics, 2005-11, Vol.68 (5), p.397-407

2005

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Session 25: Hormones and Heart Disease

Human reproduction (Oxford), 2010-06, Vol.25 (suppl-1), p.i38-i38

2010

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Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?

Netherlands heart journal, 2009-12, Vol.17 (12), p.458-463

2009

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P.241Congenital titinopathy as a cause of severe to profound congenital weakness and early death

Neuromuscular disorders : NMD, 2019-10, Vol.29, p.S137-S137

2019

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Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers

American journal of medical genetics. Part A, 2004-10, Vol.130A (2), p.128-133

2004

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Simplifying data access: the Energy Data Collection project

Computer (Long Beach, Calif.), 2001-02, Vol.34 (2), p.47-54

2001

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Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers

American journal of medical genetics. Part A, 2003-04, Vol.118A (3), p.287-289

2003

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P09.02: Uniparental disomy 14q32.2 in a fetus presenting with omphalocele

Ultrasound in obstetrics & gynecology, 2011-10, Vol.38 (S1), p.199-200

2011

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Multimedia presentation planning as an extension of text planning

Aspects of Automated Natural Language Generation, 2005, p.277-280

2005

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Trisomy 7p: report of 2 patients and literature review

Genetic counseling, 2000, Vol.11 (4), p.347

2000

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Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest double-heterozygosity?

Netherlands heart journal, 2010-09

2010

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Motives and considerations regarding PGT in couples carrying a structural chromosomal abnormality: a qualitative exploration

EP04.12: Perinatal features of Smith‐Lemli‐Opitz Syndrome

Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD

P05.10: Using whole‐exome sequencing in prenatal diagnosis of severe fetal abnormalities

VP13.07: Prenatal recurrence of artrogryposis

The cognitive and socio-emotional development of 5-year-old children born after PGD

Challenges of Interpreting Copy Number Variation in Syndromic and Non-Syndromic Congenital Heart Defects

P02.04: Diagnosis of Herlyn–Werner–Wunderlich as a result of fetal anomalies in the second trimester scan

P14.02: Ultrasound features in a case of Williams‐Beuren syndrome at second trimester scan

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

Real-Time Monitoring and Point-of-Care Testing: A Review of the Current Landscape of PrEP Adherence Monitoring

Exercise related ventricular arrhythmias are related to cardiac fibrosis in hypertrophic cardiomyopathy mutation carriers

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

Subtelomeric chromosome aberrations: still a lot to learn

Session 25: Hormones and Heart Disease

Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?

P.241Congenital titinopathy as a cause of severe to profound congenital weakness and early death

Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy

Familial insertion (3;5)(q25.3;q22.1q31.3) with deletion or duplication of chromosome region 5q22.1-5q31.3 in ten unbalanced carriers

Simplifying data access: the Energy Data Collection project

Intrachromosomal insertion translocation resulting in duplication of chromosome band Yq11.2 in two fertile brothers

P09.02: Uniparental disomy 14q32.2 in a fetus presenting with omphalocele

Multimedia presentation planning as an extension of text planning

Trisomy 7p: report of 2 patients and literature review

Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest double-heterozygosity?

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