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A Defect in the Ionotropic Glutamate Receptor 6 Gene ( GRIK2) Is Associated with Autosomal Recessive Mental Retardation

American journal of human genetics, 2007-10, Vol.81 (4), p.792-798

2007

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Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

European heart journal, 2012-06, Vol.33 (11), p.1360-1366

2012

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Genetic Variant of the Scavenger Receptor BI in Humans

The New England journal of medicine, 2011-01, Vol.364 (2), p.136-145

2011

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Plasma levels of sphingosine-1-phosphate and apolipoprotein M in patients with monogenic disorders of HDL metabolism

Atherosclerosis, 2011-12, Vol.219 (2), p.855-863

2011

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Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels

Arteriosclerosis, thrombosis, and vascular biology, 2013-07, Vol.33 (7), p.1521

2013

Volltextzugriff (PDF)

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

Human genetics, 2006-02, Vol.118 (6), p.708-715

2006

Volltextzugriff (PDF)

The Iranian human mutation database

Archives of Iranian medicine, 2007-07, Vol.10 (3), p.372

2007

Volltextzugriff (PDF)

Characterization of antioxidant/anti-inflammatory properties and apoA-I-containing subpopulations of HDL from family subjects with monogenic low HDL disorders

Clinica chimica acta, 2011-06, Vol.412 (13), p.1213-1220

2011

Volltextzugriff (PDF)

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations

Human mutation, 2011-11, Vol.32 (11), p.1290-1298

2011

Volltextzugriff (PDF)

Are high-density lipoprotein genes and their products targets for therapy?

Current opinion in lipidology, 2010-04, Vol.21 (2), p.157-158

2010

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A defect in the lonotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

American journal of human genetics, 2007-10, Vol.81 (4), p.792-798

2007

Volltextzugriff (PDF)

SNP array-based homozygosity mapping reveals MCPH71 deletion in family with autosomal recessive mental retardation and mild microcephaly

Human genetics, 2006, Vol.118 (6), p.708-715

2006

Volltextzugriff (PDF)

Impact of Rare and Common Genetic Variants on Lipoprotein Metabolism

Clinical Lipidology: A Companion to Braunwald's Heart Disease, 2015, p.68-77

Second Edition, 2015

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A Defect in the Ionotropic Glutamate Receptor 6 Gene ( GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia

Genetic Variant of the Scavenger Receptor BI in Humans

Plasma levels of sphingosine-1-phosphate and apolipoprotein M in patients with monogenic disorders of HDL metabolism

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

The Iranian human mutation database

Characterization of antioxidant/anti-inflammatory properties and apoA-I-containing subpopulations of HDL from family subjects with monogenic low HDL disorders

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations

Are high-density lipoprotein genes and their products targets for therapy?

A defect in the lonotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

SNP array-based homozygosity mapping reveals MCPH71 deletion in family with autosomal recessive mental retardation and mild microcephaly

Impact of Rare and Common Genetic Variants on Lipoprotein Metabolism

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