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An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia

Molecular psychiatry, 2008-11, Vol.13 (11), p.1060-1068

2008

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A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q

American journal of human genetics, 2003-05, Vol.72 (5), p.1251-1260

2003

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Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands

British journal of dermatology (1951), 2011-12, Vol.165 (6), p.1314-1322

2011

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Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing

Scientific reports, 2017-05, Vol.7 (1), p.1838-11, Article 1838

2017

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Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis

Neurology, 2002-03, Vol.58 (5), p.702-708

2002

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ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations

British journal of dermatology (1951), 2013-02, Vol.168 (2), p.432-434

2013

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Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family

Neurology, 2003-12, Vol.61 (12), p.1760-1765

2003

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Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1

British journal of dermatology (1951), 2011-06, Vol.164 (6), p.1280-1284

2011

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Association between an agouti-related protein gene polymorphism and anorexia nervosa

Molecular psychiatry, 2001-05, Vol.6 (3), p.325-328

2001

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Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation

Leukemia, 2017-02, Vol.31 (2), p.520-522

2017

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Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3

Brain (London, England : 1878), 2004-11, Vol.127 (11), p.2551-2557

2004

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Natural fibre reinforced sheet moulding compound

Composites. Part A, Applied science and manufacturing, 2001-01, Vol.32 (9), p.1271-1279

2001

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Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases

Clinical genetics, 2006-07, Vol.70 (1), p.43-48

2006

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Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

Prenatal diagnosis, 2005-11, Vol.25 (11), p.1032-1039

2005

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An Amino-Terminal DAX1 (NROB1) Missense Mutation Associated with Isolated Mineralocorticoid Deficiency

The journal of clinical endocrinology and metabolism, 2007-03, Vol.92 (3), p.755-761

2007

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Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing

Journal of the European Academy of Dermatology and Venereology, 2024-03

2024

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Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

British journal of dermatology (1951), 2018-11, Vol.179 (5), p.1181-1183

2018

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Neuregulin 1: genetic support for schizophrenia subtypes

Molecular psychiatry, 2004-12, Vol.9 (12), p.1061-1063

2004

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Pooled genome-wide linkage data on 424 ADHD ASPs suggests genetic heterogeneity and a common risk locus at 5p13

Molecular psychiatry, 2006-01, Vol.11 (1), p.5-8

2006

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Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia

Journal of neurology, 2001-02, Vol.248 (2), p.113-120

2001

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Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype

Journal of neurology, 2001-10, Vol.248 (10), p.911-914

2001

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“Duodenal Adenocarcinoma Giving Rise to Rectal Metastasis” a Rare Disease with an Extremely Rare Metastatic Pattern

Journal of gastrointestinal cancer, 2019-09, Vol.50 (3), p.586-588

2019

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The Human E48 Antigen, Highly Homologous to the Murine Ly-6 Antigen ThB, Is a GPI-Anchored Molecule Apparently Involved in Keratinocyte Cell-Cell Adhesion

The Journal of cell biology, 1995-06, Vol.129 (6), p.1677-1689

1995

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The PIP5K2A and RGS4 genes are differentially associated with deficit and non‐deficit schizophrenia

Genes, brain and behavior, 2007-03, Vol.6 (2), p.113-119

2007

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Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

European heart journal, 2014-08, Vol.35 (32), p.2165-2173

2014

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An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia

A Whole-Genome Scan in 164 Dutch Sib Pairs with Attention-Deficit/Hyperactivity Disorder: Suggestive Evidence for Linkage on Chromosomes 7p and 15q

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands

Novel Algorithms for Improved Sensitivity in Non-Invasive Prenatal Testing

Spinocerebellar ataxias in the Netherlands: prevalence and age at onset variance analysis

ITGB4-associated non-Herlitz junctional epidermolysis bullosa: report of two new cases carrying two novel ITGB4 mutations

Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family

Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1

Association between an agouti-related protein gene polymorphism and anorexia nervosa

Re-emergence of acute myeloid leukemia in donor cells following allogeneic transplantation in a family with a germline DDX41 mutation

Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3

Natural fibre reinforced sheet moulding compound

Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases

Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)

An Amino-Terminal DAX1 (NROB1) Missense Mutation Associated with Isolated Mineralocorticoid Deficiency

Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next-generation sequencing

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

Neuregulin 1: genetic support for schizophrenia subtypes

Pooled genome-wide linkage data on 424 ADHD ASPs suggests genetic heterogeneity and a common risk locus at 5p13

Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia

Striking anticipation in spinocerebellar ataxia type 7: the infantile phenotype

“Duodenal Adenocarcinoma Giving Rise to Rectal Metastasis” a Rare Disease with an Extremely Rare Metastatic Pattern

The Human E48 Antigen, Highly Homologous to the Murine Ly-6 Antigen ThB, Is a GPI-Anchored Molecule Apparently Involved in Keratinocyte Cell-Cell Adhesion

The PIP5K2A and RGS4 genes are differentially associated with deficit and non‐deficit schizophrenia

Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

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