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Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics

Frontiers in genetics, 2022-07, Vol.13, p.831452-831452

2022

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Dimethyl ether/CO2 – a hitherto underestimated H2 storage cycle

Energy & environmental science, 2023-07, Vol.16 (7), p.3002-3013

2023

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Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes

Human reproduction (Oxford), 2021-12, Vol.37 (1), p.178-189

2021

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A genome-wide DNA methylation signature for SETD1B-related syndrome

Clinical epigenetics, 2019-11, Vol.11 (1), p.156-156, Article 156

2019

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N-glycosylation of infectious bronchitis virus M41 spike determines receptor specificity

Journal of general virology, 2020-06, Vol.101 (6), p.599-608

2020

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Membranprozesse zur Heliumgewinnung

Chemie ingenieur technik, 2016-09, Vol.88 (9), p.1379-1379

2016

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Epigenotype–phenotype correlations in Silver–Russell syndrome

Journal of medical genetics, 2010-11, Vol.47 (11), p.760-768

2010

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Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Clinical epigenetics, 2019-03, Vol.11 (1), p.53-53, Article 53

2019

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance

Netherlands heart journal, 2019-06, Vol.27 (6), p.304-309

2019

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Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

International journal of oral and maxillofacial surgery, 2020-11, Vol.49 (11), p.1464-1469

2020

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Molecular basis of unilateral condylar hyperplasia?

International journal of oral and maxillofacial surgery, 2020-11, Vol.49 (11), p.1397-1401

2020

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Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients

Journal of medical genetics, 2005-11, Vol.42 (11), p.863-870

2005

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Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients

European journal of cancer (1990), 2012-11, Vol.48 (17), p.3249-3256

2012

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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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Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene

Forensic science international, 2017-06, Vol.275, p.187-194

2017

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International point prevalence study of Intensive Care Unit transfusion practices—Pilot study in the Netherlands

Transfusion clinique et biologique : journal de la Société française de transfusion sanguine, 2019-11, Vol.26 (4), p.202-208

2019

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Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice

Netherlands heart journal, 2019-06, Vol.27 (6), p.299-303

2019

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Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

Journal of medical case reports, 2017-04, Vol.11 (1), p.88-88, Article 88

2017

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The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands

European heart journal, 2003-10, Vol.24 (20), p.1848-1853

2003

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Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

Journal of medical genetics, 2006-10, Vol.43 (10), p.829-832

2006

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Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6

Netherlands heart journal, 2011-06, Vol.19 (6), p.290-296

2011

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Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

European journal of medical genetics, 2009-11, Vol.52 (6), p.404-408

2009

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How is mixed-gas permeation through poly(1-trimethylsilyl-1-propyne) membranes influenced by elevated temperatures?

Journal of membrane science, 2020-12, Vol.615, p.118430, Article 118430

2020

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Biallelic mutations in UNC80 cause severe hypotonia, muscle weakness, growth retardation, and intellectual disability

Neuromuscular disorders : NMD, 2016-10, Vol.26, p.S197-S198

2016

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P191 – 2505: Two siblings with a CDKL5 mutation: Genotype and phenotype evaluation

European journal of paediatric neurology, 2015-05, Vol.19, p.S147-S147

2015

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Further Introduction of DNA Methylation (DNAm) Arrays in Regular Diagnostics

Dimethyl ether/CO2 – a hitherto underestimated H2 storage cycle

Bi-allelic variants in DNA mismatch repair proteins MutS Homolog MSH4 and MSH5 cause infertility in both sexes

A genome-wide DNA methylation signature for SETD1B-related syndrome

N-glycosylation of infectious bronchitis virus M41 spike determines receptor specificity

Membranprozesse zur Heliumgewinnung

Epigenotype–phenotype correlations in Silver–Russell syndrome

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance

Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

Molecular basis of unilateral condylar hyperplasia?

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients

Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients

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

Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene

International point prevalence study of Intensive Care Unit transfusion practices—Pilot study in the Netherlands

Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6

Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions

How is mixed-gas permeation through poly(1-trimethylsilyl-1-propyne) membranes influenced by elevated temperatures?

Biallelic mutations in UNC80 cause severe hypotonia, muscle weakness, growth retardation, and intellectual disability

P191 – 2505: Two siblings with a CDKL5 mutation: Genotype and phenotype evaluation

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