UB Paderborn / Katalog / Suche / in CDI

Association of TNF-α serum levels and TNFA promoter polymorphisms with risk of myocardial infarction

Atherosclerosis, 2006-08, Vol.187 (2), p.408-414

2006

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Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

Clinical neurology and neurosurgery, 2021-07, Vol.206, p.106637-106637, Article 106637

2021

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Adverse pregnancy outcome in fetuses with early increased nuchal translucency: prospective cohort study

Ultrasound in obstetrics & gynecology, 2024-02

2024

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Eliminating first trimester combined testing: Consequences for early detection of significant fetal anomalies

Prenatal diagnosis, 2024-05, Vol.44 (5), p.544-554

2024

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Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions

Journal of the European Academy of Dermatology and Venereology, 2023-12, Vol.37 (12), p.e1405-e1409

2023

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Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene

Case reports in obstetrics and gynecology, 2016-01, Vol.2016, p.7625341-5

2016

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Getting insurance after genetic screening on familial hypercholesterolaemia; the need to educate both insurers and the public to increase adherence to national guidelines in the Netherlands

Journal of epidemiology and community health (1979), 2002-02, Vol.56 (2), p.145-147

2002

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Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

Journal of medical genetics, 2014-02, Vol.51 (2), p.90-97

2014

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Fetal forearm anomalies: prenatal diagnosis, associations and management strategy

Prenatal diagnosis, 2012-11, Vol.32 (11), p.1084-1093

2012

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Risk perception of participants in a family-based genetic screening program on familial hypercholesterolemia

American journal of medical genetics. Part A, 2003-01, Vol.116A (2), p.136-143

2003

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How Disturbing Is It to Be Approached for a Genetic Cascade Screening Programme for Familial Hypercholesterolaemia?: Psychological Impact and Screenees’ Views

Community genetics, 2001-01, Vol.4 (4), p.244-252

2001

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Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants

Journal of medical genetics, 2003-01, Vol.40 (1), p.e3-3

2003

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OP01.02: Enlarged nuchal translucency: more common in boys large for gestational age at birth

Ultrasound in obstetrics & gynecology, 2008-08, Vol.32 (3), p.308-308

2008

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Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Journal of medical genetics, 2010-03, Vol.47 (3), p.169-175

2010

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Follow up after a family based genetic screening programme for familial hypercholesterolaemia: is screening alone enough?

BMJ (Online), 2002-06, Vol.324 (7350), p.1367

International edition, 2002

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SESSION 05: EARLY PREGNANCY

Human reproduction (Oxford), 2012-07, Vol.27 (suppl_2), p.ii9-ii11

2012

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A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism

Oral surgery, oral medicine, oral pathology, oral radiology and endodontics, 2007-03, Vol.103 (3), p.378-381

2007

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Follow up after a family based genetic screening programme for familial hypercholesterolaemia: is screening alone enough?

British Medical Journal, 2002-06, Vol.324 (7350), p.1367-1368

2002

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Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene

Case reports in obstetrics and gynecology, 2016, Vol.2016, p.7625341-7625341

2016

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How Disturbing Is It to Be Approached for a Genetic Cascade Screening Programme for Familial Hypercholesterolaemia?

Community genetics, 2001-01, Vol.4 (4), p.244-252

2001

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Genetics of early miscarriage

Biochimica et biophysica acta, 2012-12, Vol.1822 (12), p.1951-1959

2012

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Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

European journal of human genetics : EJHG, 2018-02, Vol.26 (2), p.166-175

2018

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Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results

Journal of genetic counseling, 2017-12, Vol.26 (6), p.1348-1356

2017

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Association of TNF-α serum levels and TNFA promoter polymorphisms with risk of myocardial infarction

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

Adverse pregnancy outcome in fetuses with early increased nuchal translucency: prospective cohort study

Eliminating first trimester combined testing: Consequences for early detection of significant fetal anomalies

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions

Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene

Getting insurance after genetic screening on familial hypercholesterolaemia; the need to educate both insurers and the public to increase adherence to national guidelines in the Netherlands

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

Fetal forearm anomalies: prenatal diagnosis, associations and management strategy

Risk perception of participants in a family-based genetic screening program on familial hypercholesterolemia

How Disturbing Is It to Be Approached for a Genetic Cascade Screening Programme for Familial Hypercholesterolaemia?: Psychological Impact and Screenees’ Views

Quality of life in a family based genetic cascade screening programme for familial hypercholesterolaemia: a longitudinal study among participants

OP01.02: Enlarged nuchal translucency: more common in boys large for gestational age at birth

Genotype–phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Follow up after a family based genetic screening programme for familial hypercholesterolaemia: is screening alone enough?

SESSION 05: EARLY PREGNANCY

A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism

Follow up after a family based genetic screening programme for familial hypercholesterolaemia: is screening alone enough?

Prenatal Evidence of Persistent Notochord and Absent Sacrum Caused by a Mutation in the T (Brachyury) Gene

How Disturbing Is It to Be Approached for a Genetic Cascade Screening Programme for Familial Hypercholesterolaemia?

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Genetics of early miscarriage

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

Women’s Experience with Non-Invasive Prenatal Testing and Emotional Well-being and Satisfaction after Test-Results

Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

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