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Common Severe Infections in Chronic Granulomatous Disease

Clinical infectious diseases, 2015-04, Vol.60 (8), p.1176-1183

2015

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Technical note: Evaluation of an ear-attached movement sensor to record cow feeding behavior and activity

Journal of dairy science, 2014-05, Vol.97 (5), p.2974-2979

2014

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Male patients affected by mosaic PCDH19 mutations: five new cases

Neurogenetics, 2017-07, Vol.18 (3), p.147-153

2017

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Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.95-104

2005

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De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

Clinical genetics, 2018-05, Vol.93 (5), p.1000-1007

2018

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Effect of Ichthyophonus on blood plasma chemistry of spawning Chinook salmon and their resulting offspring in a Yukon River tributary

Diseases of aquatic organisms, 2017-01, Vol.122 (3), p.223-236

2017

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Journal of medical genetics, 2007-02, Vol.44 (2), p.89-98

2007

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A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)

Clinical genetics, 2011-02, Vol.79 (2), p.183-188

2011

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Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

Clinical genetics, 2008-11, Vol.74 (5), p.455-462

2008

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Essential fatty acid composition of plasma phospholipids and birth weight : a study in term neonates

The American journal of clinical nutrition, 2001-04, Vol.73 (4), p.797-806

2001

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OP11 – 2424: Genotype–phenotype correlations in patients with GRIN2A variants

European journal of paediatric neurology, 2015-05, Vol.19, p.S4-S4

2015

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IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

Journal of clinical immunology, 2015-07, Vol.35 (5), p.449-453

2015

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Glucokinase-Maturity-Onset Diabetes of the Young en zwangerschap

Nederlands Tijdschrift voor Diabetolog, 2017, Vol.15 (1), p.17-20

2017

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Atopic manifestations during childhood and fetal exposure to arachidonic acid

Clinical and experimental allergy, 2011-10, Vol.41 (10), p.1493-1494

2011

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Components of the insulin resistance syndrome in seven-year-old children: relations with birth weight and the polyunsaturated fatty acid content of umbilical cord plasma phospholipids

Diabetologia, 2002-03, Vol.45 (3), p.349-355

2002

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Body Composition and Cardiorespiratory Fitness Indicators in Prepubescent Boys and Girls

International journal of sports medicine, 2002, Vol.23 (1), p.50-54

2002

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Relation between arachidonic acid and docosahexaenoic acid in maternal and neonatal blood

European journal of clinical nutrition, 2001-10, Vol.55 (10), p.916-917

2001

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Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

American journal of medical genetics. Part A, 2006-02, Vol.140A (3), p.284-290

2006

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Interaction between a common variant of the cholesteryl ester transfer protein gene and the apolipoprotein E polymorphism: effects on plasma lipids and lipoproteins in a cohort of 7-year-old children

Nutrition, metabolism, and cardiovascular diseases, 2002-12, Vol.12 (6), p.317-324

2002

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A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration : evidence for a founder effect

Neurogenetics, 2005-12, Vol.6 (4), p.201-207

2005

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Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome

Cardiovascular research, 2010-10, Vol.88 (1), p.130-139

2010

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Leptin and phospholipid-esterified docosahexaenoic acid concentrations in plasma of women : observations during pregnancy and lactation

European journal of clinical nutrition, 2001-04, Vol.55 (4), p.244-251

2001

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CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Orphanet journal of rare diseases, 2014-05, Vol.9 (1), p.74-74, Article 74

2014

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Determinants of overweight in a cohort of Dutch children

The American journal of clinical nutrition, 2006-10, Vol.84 (4), p.717-724

2006

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Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome

Journal of medical genetics, 1997-09, Vol.34 (9), p.767-771

1997

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Common Severe Infections in Chronic Granulomatous Disease

Technical note: Evaluation of an ear-attached movement sensor to record cow feeding behavior and activity

Male patients affected by mosaic PCDH19 mutations: five new cases

Tumor risk in Beckwith-Wiedemann syndrome: A review and meta-analysis

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review

Effect of Ichthyophonus on blood plasma chemistry of spawning Chinook salmon and their resulting offspring in a Yukon River tributary

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)

Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)

Essential fatty acid composition of plasma phospholipids and birth weight : a study in term neonates

OP11 – 2424: Genotype–phenotype correlations in patients with GRIN2A variants

IL2RG Reversion Event in a Common Lymphoid Progenitor Leads to Delayed Diagnosis and Milder Phenotype

Glucokinase-Maturity-Onset Diabetes of the Young en zwangerschap

Atopic manifestations during childhood and fetal exposure to arachidonic acid

Components of the insulin resistance syndrome in seven-year-old children: relations with birth weight and the polyunsaturated fatty acid content of umbilical cord plasma phospholipids

Body Composition and Cardiorespiratory Fitness Indicators in Prepubescent Boys and Girls

Relation between arachidonic acid and docosahexaenoic acid in maternal and neonatal blood

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

Interaction between a common variant of the cholesteryl ester transfer protein gene and the apolipoprotein E polymorphism: effects on plasma lipids and lipoproteins in a cohort of 7-year-old children

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration : evidence for a founder effect

Functional analysis of novel TBX5 T-box mutations associated with Holt–Oram syndrome

Leptin and phospholipid-esterified docosahexaenoic acid concentrations in plasma of women : observations during pregnancy and lactation

CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

Determinants of overweight in a cohort of Dutch children

Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome

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