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State-level benefits of energy efficiency

Energy policy, 2007-07, Vol.35 (7), p.3665-3674

2007

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The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

JIMD reports, 2023-05, Vol.64 (3), p.233-237

2023

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Point mutations regarded as missense mutations cause splicing defects in the factor XI gene

Journal of thrombosis and haemostasis, 2011-10, Vol.9 (10), p.1977-1984

2011

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Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening

Molecular genetics and metabolism, 2021-09, Vol.134 (1-2), p.37-42

2021

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Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews

Journal of thrombosis and haemostasis, 2013-04, Vol.11 (4), p.724-730

2013

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Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)

American journal of medical genetics. Part A, 2020-06, Vol.182 (6), p.1491-1495

2020

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A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome

American journal of medical genetics. Part A, 2023-02, Vol.191 (2), p.624-629

2023

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A common ancestral mutation (C128X) occurring in 11 non‐Jewish families from the UK with factor XI deficiency

Journal of thrombosis and haemostasis, 2004-06, Vol.2 (6), p.918-924

2004

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Time dependent protection of amifostine from renal and hematopoietic cisplatin induced toxicity

Life sciences (1973), 2005-03, Vol.76 (16), p.1825-1834

2005

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Aragonite crystalline matrix as an instructive microenvironment for neural development

Journal of tissue engineering and regenerative medicine, 2008-12, Vol.2 (8), p.463-471

2008

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Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients

Journal of thrombosis and haemostasis, 2006-08, Vol.4 (8), p.1730-1737

2006

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Explaining the Performance of Mature Municipal Solid Waste Recycling Programs

Journal of environmental planning and management, 2005-09, Vol.48 (5), p.627-650

2005

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Triggered C-reactive protein (CRP) concentrations and the CRP gene −717A>G polymorphism in acute stroke or transient ischemic attack

European journal of neurology, 2007-03, Vol.14 (3), p.315-320

2007

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An assessment of waste issues associated with the production of new, lightweight, fuel-efficient vehicles

Journal of cleaner production, 2003-11, Vol.11 (7), p.753-765

2003

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The human platelet αIIb gene is not closely linked to its integrin partner β3

Blood, 1999-09, Vol.94 (6), p.2039-2047

1999

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Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population

Journal of medical genetics, 2005-05, Vol.42 (5), p.e30-e30

2005

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Evaluating knowledge benefits of automotive lightweighting materials R&D projects

Evaluation and program planning, 2009-08, Vol.32 (3), p.300-309

2009

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Glanzmann thrombasthenia: new insights from an historical perspective

Seminars in hematology, 1994-10, Vol.31 (4), p.301-311

1994

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Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene

Blood, 2002-04, Vol.99 (7), p.2448-2454

2002

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A Single Genetic Origin for the Common Prothrombotic G20210A Polymorphism in the Prothrombin Gene

Blood, 1998-08, Vol.92 (4), p.1119-1124

1998

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Polymorphic markers in the XDH gene as diagnostic tools for typing classical xanthinuria

Advances in experimental medicine and biology, 2000, Vol.486, p.83

2000

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Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of α IIb β 3 integrin ( ITGA2B, ITGB3 )

Human mutation, 2006-04, Vol.27 (4), p.359-369

2006

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Application of economic evaluation techniques to automotive lightweighting materials research and development projects

Research evaluation, 2008-06, Vol.17 (2), p.133-148

2008

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Improved method for genotyping apolipoprotein E polymorphisms by a PCR-based assay simultaneously utilizing two distinct restriction enzymes

Clinical chemistry (Baltimore, Md.), 1997-09, Vol.43 (9), p.1657-1659

1997

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Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus

Blood, 2003-06, Vol.101 (12), p.4808-4815

2003

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State-level benefits of energy efficiency

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

Point mutations regarded as missense mutations cause splicing defects in the factor XI gene

Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening

Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews

Natural history of the oldest known females with mucopolysaccharidosis type IVA (Morquio A syndrome)

A de novo hexokinase 1 (HK1) variant presenting as Boucher–Neuhäuser syndrome

A common ancestral mutation (C128X) occurring in 11 non‐Jewish families from the UK with factor XI deficiency

Time dependent protection of amifostine from renal and hematopoietic cisplatin induced toxicity

Aragonite crystalline matrix as an instructive microenvironment for neural development

Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients

Explaining the Performance of Mature Municipal Solid Waste Recycling Programs

Triggered C-reactive protein (CRP) concentrations and the CRP gene −717A>G polymorphism in acute stroke or transient ischemic attack

An assessment of waste issues associated with the production of new, lightweight, fuel-efficient vehicles

The human platelet αIIb gene is not closely linked to its integrin partner β3

Search for genetic variants associated with cutaneous malignant melanoma in the Ashkenazi Jewish population

Evaluating knowledge benefits of automotive lightweighting materials R&D projects

Glanzmann thrombasthenia: new insights from an historical perspective

Factor XI deficiency in French Basques is caused predominantly by an ancestral Cys38Arg mutation in the factor XI gene

A Single Genetic Origin for the Common Prothrombotic G20210A Polymorphism in the Prothrombin Gene

Polymorphic markers in the XDH gene as diagnostic tools for typing classical xanthinuria

Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of α IIb β 3 integrin ( ITGA2B, ITGB3 )

Application of economic evaluation techniques to automotive lightweighting materials research and development projects

Improved method for genotyping apolipoprotein E polymorphisms by a PCR-based assay simultaneously utilizing two distinct restriction enzymes

Major mutations in calf-1 and calf-2 domains of glycoprotein IIb in patients with Glanzmann thrombasthenia enable GPIIb/IIIa complex formation, but impair its transport from the endoplasmic reticulum to the Golgi apparatus

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