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Mutation −59c→t in Repeat 2 of the LDL Receptor Promoter: Reduction in Transcriptional Activity and Possible Allelic Interaction in a South African Family with Familial Hypercholesterolaemia

Human molecular genetics, 1999-10, Vol.8 (11), p.2025-2030

1999

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Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

Human genetics, 1997-08, Vol.100 (2), p.266-270

1997

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Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics

Atherosclerosis, 1994-12, Vol.111 (2), p.217-225

1994

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Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics

Molecular and cellular probes, 2001-12, Vol.15 (6), p.329-336

2001

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Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation

Journal of medical genetics, 1995-05, Vol.32 (5), p.379-382

1995

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Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene

Human genetics, 1996-10, Vol.98 (4), p.476-478

1996

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Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa

Clinical genetics, 1998-07, Vol.54 (1), p.74-78

1998

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Intronic mutations at splice junctions in the low-density lipoprotein receptor gene

Molecular and cellular probes, 1999-08, Vol.13 (4), p.257-260

1999

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A rare silent G to T mutation in exon 4 of the human low density lipoprotein receptor gene

Clinical genetics, 1995-02, Vol.47 (2), p.101-102

1995

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Concentrations of the atherogenic Lp(a) are elevated in FH

European journal of human genetics : EJHG, 1998-01, Vol.6 (1), p.50-60

1998

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A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi

Journal of lipid research, 1998-05, Vol.39 (5), p.1021-1024

1998

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Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms

Human genetics, 1995-10, Vol.96 (4), p.401-406

1995

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Improved heteroduplex detection of single-base substitutions in PCR-amplified DNA

PCR methods and applications, 1994-12, Vol.4 (3), p.188

1994

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Mutation -59c arrow right t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia

Human molecular genetics, 1999-10, Vol.8 (11), p.2025-2030

1999

Volltextzugriff (PDF)

Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations

PCR methods and applications, 1995-06, Vol.4 (6), p.352

1995

Volltextzugriff (PDF)

Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis

Molecular and cellular probes, 1994-12, Vol.8 (6), p.513-518

1994

Volltextzugriff (PDF)

Discriminating the effects of phylogenetic hypothesis, tree resolution and clade age estimates on phylogenetic signal measurements

Plant biology (Stuttgart, Germany), 2013-09, Vol.15 (5), p.858-867

2013

Volltextzugriff (PDF)

Supplemental MRI Screening for Women with Extremely Dense Breast Tissue

The New England journal of medicine, 2019-11, Vol.381 (22), p.2091-2102

2019

Volltextzugriff (PDF)

EUSOMA quality indicators for non-metastatic breast cancer: An update

European journal of cancer (1990), 2024-02, Vol.198, p.113500-113500, Article 113500

2024

Volltextzugriff (PDF)

Electrically controlled water permeation through graphene oxide membranes

Nature (London), 2018-07, Vol.559 (7713), p.236-240

2018

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Safety of intra-articular cell-therapy with culture-expanded stem cells in humans: a systematic literature review

Osteoarthritis and cartilage, 2013-10, Vol.21 (10), p.1465-1473

2013

Volltextzugriff (PDF)

Hepatocellular Carcinoma Risk Factors and Disease Burden in a European Cohort: A Nested Case-Control Study

JNCI : Journal of the National Cancer Institute, 2011-11, Vol.103 (22), p.1686-1695

2011

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18F-FDG PET/CT as a staging procedure in primary stage II and III breast cancer: comparison with conventional imaging techniques

Breast cancer research and treatment, 2012, Vol.131 (1), p.117-126

2012

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The long-term effect of mTOR inhibition on lipid and glucose metabolism in tuberous sclerosis complex: data from the Dutch TSC registry

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.252-252, Article 252

2022

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Advances in porous and nanoscale catalysts for viable biomass conversion

Chemical Society reviews, 2019-04, Vol.48 (8), p.2366-2421

2019

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Mutation −59c→t in Repeat 2 of the LDL Receptor Promoter: Reduction in Transcriptional Activity and Possible Allelic Interaction in a South African Family with Familial Hypercholesterolaemia

Mutational and genetic origin of LDL receptor gene mutations detected in both Belgian and Dutch familial hypercholesterolemics

Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics

Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics

Screening for mutations in exon 4 of the LDL receptor gene: identification of a new deletion mutation

Mutation analysis reveals an insertional hotspot in exon 4 of the LDL receptor gene

Familial hypercholesterolemia: potential diagnostic value of mutation screening in a pediatric population of South Africa

Intronic mutations at splice junctions in the low-density lipoprotein receptor gene

A rare silent G to T mutation in exon 4 of the human low density lipoprotein receptor gene

Concentrations of the atherogenic Lp(a) are elevated in FH

A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi

Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms

Improved heteroduplex detection of single-base substitutions in PCR-amplified DNA

Mutation -59c arrow right t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia

Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations

Detection of two point mutations causing familial defective apolipoprotein B-100 by heteroduplex analysis

Discriminating the effects of phylogenetic hypothesis, tree resolution and clade age estimates on phylogenetic signal measurements

Supplemental MRI Screening for Women with Extremely Dense Breast Tissue

EUSOMA quality indicators for non-metastatic breast cancer: An update

Electrically controlled water permeation through graphene oxide membranes

Safety of intra-articular cell-therapy with culture-expanded stem cells in humans: a systematic literature review

Hepatocellular Carcinoma Risk Factors and Disease Burden in a European Cohort: A Nested Case-Control Study

18F-FDG PET/CT as a staging procedure in primary stage II and III breast cancer: comparison with conventional imaging techniques

The long-term effect of mTOR inhibition on lipid and glucose metabolism in tuberous sclerosis complex: data from the Dutch TSC registry

Advances in porous and nanoscale catalysts for viable biomass conversion

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