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CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients[S]

Journal of lipid research, 2013-12, Vol.54 (12), p.3491-3505

2013

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Genetic and other sources of variation in the activity of serum paraoxonase/diazoxonase in humans: consequences for risk from exposure to diazinon

Pharmacogenetics and genomics, 2005-01, Vol.15 (1), p.51-60

2005

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Immunolocalization of cystinosin, the protein defective in cystinosis

Journal of the American Society of Nephrology, 2002-08, Vol.13 (8), p.2046-2051

2002

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Linkage of the gene for cystinosis to markers on the short arm of chromosome 17

Nature genetics, 1995-06, Vol.10 (2), p.246-248

1995

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A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Nature genetics, 1998-04, Vol.18 (4), p.319-324

1998

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Genetic Association of the Serotonin Transporter in Pulmonary Arterial Hypertension

American journal of respiratory and critical care medicine, 2006-04, Vol.173 (7), p.793-797

2006

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Genome-Wide Scan for Premature Hypertension Supports Linkage to Chromosome 2 in a Large Kyrgyz Family

Hypertension (Dallas, Tex. 1979), 2006-11, Vol.48 (5), p.908-913

2006

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Severity of phenotype in cystinosis varies with mutations in the CTNS gene : predicted effect on the model of cystinosin

Human molecular genetics, 1999-12, Vol.8 (13), p.2507-2514

1999

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Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay

American journal of human genetics, 1999-08, Vol.65 (2), p.353-359

1999

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Structure of the Human Sarco/Endoplasmic Reticulum Ca2+-ATPase 3 Gene

The Journal of biological chemistry, 1998-05, Vol.273 (22), p.13982-13994

1998

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Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation

European journal of human genetics : EJHG, 1999-09, Vol.7 (6), p.671-678

1999

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Clinical and molecular aspects of nephropathic cystinosis

Journal of molecular medicine (Berlin, Germany), 1998-04, Vol.76 (5), p.295-302

1998

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High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis

American journal of human genetics, 1996-03, Vol.58 (3), p.535-543

1996

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Both mutations in G6PD A — are necessary to produce the G6PD deficient phenotype

Human molecular genetics, 1992-06, Vol.1 (3), p.171-174

1992

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Deficiency in red blood cells

Nature (London), 1991-03, Vol.350 (6314), p.115-115

1991

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A methodological comparison of tone decay in audiometrically normal ears

Town, Margaret Jean

1968

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Favism in the African type of glucose-6-phosphate dehydrogenase deficiency (A-)

BMJ, 1990-01, Vol.300 (6719), p.236-236

1990

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The production of normal and variant human glucose‐6‐phosphate dehydrogenase in cos cells

European journal of biochemistry, 1988-12, Vol.178 (1), p.109-113

1988

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Fine Mapping of the Cystinosis Gene Using an Integrated Genetic and Physical Map of a Region within Human Chromosome Band 17p13

Biochemical and molecular medicine, 1996-08, Vol.58 (2), p.135-141

1996

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The influence of water on the resistance of spores to inactivation by gaseous ethylene oxide

Journal of Applied Bacteriology, 1985-06, Vol.58 (6), p.613-621

1985

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A standardized monitor for the control of ethylene oxide sterilization cycles

The Journal of hygiene, 1983-08, Vol.91 (1), p.93-100

1983

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Quality of Care of People With Type 2 Diabetes in Eight European Countries: Findings from the Guideline Adherence to Enhance Care (GUIDANCE) study

Diabetes care, 2013-09, Vol.36 (9), p.2628-2638

2013

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Bifidobacterial Species Differentially Affect Expression of Cell Surface Markers and Cytokines of Dendritic Cells Harvested from Cord Blood

Clinical and Diagnostic Laboratory Immunology, 2004-07, Vol.11 (4), p.686-690

2004

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CD4+ T Cell Count Decreases by Ethnicity among Untreated Patients with HIV Infection in South Africa and Switzerland

The Journal of infectious diseases, 2009-12, Vol.200 (11), p.1729-1735

2009

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Infinity in Logic and Computation: International Conference, ILC 2007, Cape Town, South Africa, November 3-5, 2007, Revised Selected Papers

1, 2009

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CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients[S]

Genetic and other sources of variation in the activity of serum paraoxonase/diazoxonase in humans: consequences for risk from exposure to diazinon

Immunolocalization of cystinosin, the protein defective in cystinosis

Linkage of the gene for cystinosis to markers on the short arm of chromosome 17

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Genetic Association of the Serotonin Transporter in Pulmonary Arterial Hypertension

Genome-Wide Scan for Premature Hypertension Supports Linkage to Chromosome 2 in a Large Kyrgyz Family

Severity of phenotype in cystinosis varies with mutations in the CTNS gene : predicted effect on the model of cystinosin

Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay

Structure of the Human Sarco/Endoplasmic Reticulum Ca2+-ATPase 3 Gene

Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation

Clinical and molecular aspects of nephropathic cystinosis

High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis

Both mutations in G6PD A — are necessary to produce the G6PD deficient phenotype

Deficiency in red blood cells

A methodological comparison of tone decay in audiometrically normal ears

Favism in the African type of glucose-6-phosphate dehydrogenase deficiency (A-)

The production of normal and variant human glucose‐6‐phosphate dehydrogenase in cos cells

Fine Mapping of the Cystinosis Gene Using an Integrated Genetic and Physical Map of a Region within Human Chromosome Band 17p13

The influence of water on the resistance of spores to inactivation by gaseous ethylene oxide

A standardized monitor for the control of ethylene oxide sterilization cycles

Quality of Care of People With Type 2 Diabetes in Eight European Countries: Findings from the Guideline Adherence to Enhance Care (GUIDANCE) study

Bifidobacterial Species Differentially Affect Expression of Cell Surface Markers and Cytokines of Dendritic Cells Harvested from Cord Blood

CD4+ T Cell Count Decreases by Ethnicity among Untreated Patients with HIV Infection in South Africa and Switzerland

Infinity in Logic and Computation: International Conference, ILC 2007, Cape Town, South Africa, November 3-5, 2007, Revised Selected Papers

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