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Factor VII deficiency: A cause of (or risk factor for) bleeding?

British journal of haematology, 2023-08, Vol.202 (3), p.457-458

Hampshire, Daniel J.

2023

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The effect of process parameters on the structure, photocatalytic and self-cleaning properties of TiO2 and Ag-TiO2 coatings deposited using reactive magnetron sputtering

Thin solid films, 2014-11, Vol.571, p.75-83

2014

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Nature genetics, 2005-04, Vol.37 (4), p.353-355

2005

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Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

American journal of human genetics, 2002-07, Vol.71 (1), p.136-142

2002

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ASPM is a major determinant of cerebral cortical size

Nature genetics, 2002-10, Vol.32 (2), p.316-320

2002

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Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

American journal of human genetics, 2006-05, Vol.78 (5), p.889-896

2006

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Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

American journal of human genetics, 2003-11, Vol.73 (5), p.1170-1177

2003

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The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked

Haematologica (Roma), 2011-06, Vol.96 (6), p.798-800

2011

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The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers

Haemophilia : the official journal of the World Federation of Hemophilia, 2020-03, Vol.26 (2), p.306-313

2020

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Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Journal of medical genetics, 2001-10, Vol.38 (10), p.680-682

2001

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Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

Journal of medical genetics, 2002-10, Vol.39 (10), p.718-721

2002

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The EAHAD blood coagulation factor VII variant database

Human mutation, 2020-07, Vol.41 (7), p.1209-1219

2020

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Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort

Thrombosis and haemostasis, 2013-08, Vol.110 (2), p.264-274

2013

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INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Nature genetics, 2009-09, Vol.41 (9), p.1027-1031

2009

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Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort

Haematologica (Roma), 2010-12, Vol.95 (12), p.2163-2165

2010

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The international society on thrombosis and haematosis von Willebrand disease database: an update

Seminars in thrombosis and hemostasis, 2011-07, Vol.37 (5), p.470-479

2011

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αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

Proceedings of the National Academy of Sciences - PNAS, 2015-04, Vol.112 (15), p.E1898-E1907

2015

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Naturally occurring horse model of miscarriage reveals temporal relationship between chromosomal aberration type and point of lethality

Proceedings of the National Academy of Sciences - PNAS, 2024-08, Vol.121 (33), p.e2405636121

2024

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A Bioinformatics Toolkit: In Silico Tools and Online Resources for Investigating Genetic Variation

Seminars in thrombosis and hemostasis, 2019-10, Vol.45 (7), p.674-684

2019

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Coating characteristics and tribological properties of sputter-deposited MoS2/metal composite coatings deposited by closed field unbalanced magnetron sputter ion plating

Surface & coatings technology, 2000-05, Vol.127 (1), p.24-37

2000

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Performance of MoS2/metal composite coatings used for dry machining and other industrial applications

Surface & coatings technology, 2000-01, Vol.123 (1), p.84-91

2000

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Optimal deposition conditions of TiN barrier layers for the growth of vertically aligned carbon nanotubes onto metallic substrates

Journal of physics. D, Applied physics, 2009-05, Vol.42 (10), p.104002

2009

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The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance

Blood advances, 2018-07, Vol.2 (13), p.1585-1594

2018

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MORM syndrome ( ental retardation, truncal besity, etinal dystrophy and icropenis), a new autosomal recessive disorder, links to 9q34

European journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.543-548

2006

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Efficient Solid-Phase-Based Total Synthesis of the Bisintercalator TANDEM

Journal of organic chemistry, 2005-09, Vol.70 (19), p.7654-7661

2005

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Factor VII deficiency: A cause of (or risk factor for) bleeding?

The effect of process parameters on the structure, photocatalytic and self-cleaning properties of TiO2 and Ag-TiO2 coatings deposited using reactive magnetron sputtering

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain

ASPM is a major determinant of cerebral cortical size

Quantification of Homozygosity in Consanguineous Individuals with Autosomal Recessive Disease

Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size

The molecular basis of von Willebrand disease: the under investigated, the unexpected and the overlooked

The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

The EAHAD blood coagulation factor VII variant database

Identification and characterisation of mutations associated with von Willebrand disease in a Turkish patient cohort

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

Polymorphic variation within the VWF gene contributes to the failure to detect mutations in patients historically diagnosed with type 1 von Willebrand disease from the MCMDM-1VWD cohort

The international society on thrombosis and haematosis von Willebrand disease database: an update

αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

Naturally occurring horse model of miscarriage reveals temporal relationship between chromosomal aberration type and point of lethality

A Bioinformatics Toolkit: In Silico Tools and Online Resources for Investigating Genetic Variation

Coating characteristics and tribological properties of sputter-deposited MoS2/metal composite coatings deposited by closed field unbalanced magnetron sputter ion plating

Performance of MoS2/metal composite coatings used for dry machining and other industrial applications

Optimal deposition conditions of TiN barrier layers for the growth of vertically aligned carbon nanotubes onto metallic substrates

The common VWF single nucleotide variants c.2365A>G and c.2385T>C modify VWF biosynthesis and clearance

MORM syndrome ( ental retardation, truncal besity, etinal dystrophy and icropenis), a new autosomal recessive disorder, links to 9q34

Efficient Solid-Phase-Based Total Synthesis of the Bisintercalator TANDEM

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