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The effect of personality on measures of quality of life related to vision in glaucoma patients

British journal of ophthalmology, 2009-03, Vol.93 (3), p.310-315

2009

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Cytokine expression in serum and cerebrospinal fluid in non-inflammatory polyneuropathies

Journal of neurology, neurosurgery and psychiatry, 2008-11, Vol.79 (11), p.1268-1273

2008

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Inhibition of leukotriene B4-induced CD11B/CD18 (Mac-1) expression by BIIL 284, a new long acting LTB4 receptor antagonist, in patients with rheumatoid arthritis

Annals of the rheumatic diseases, 2004-02, Vol.63 (2), p.170-176

2004

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Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

Journal of medical genetics, 1999-08, Vol.36 (8), p.621-624

1999

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The deletion of six amino acids at the C-terminus of the α1(II) chain causes overmodification of type II and type XI collagen : further evidence for the association between small deletions in COL2A1 and Kniest dysplasia

Journal of medical genetics, 1996, Vol.33 (8), p.649-654

1996

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Clinical variability of osteogenesis imperfecta linked to COL1A 2 and associated with a structural defect in the type I collagen molecule

Journal of medical genetics, 1989, Vol.26 (6), p.358-362

1989

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Non-invasive three-dimensional localisation of arrhythmogenic foci in Wolff-Parkinson-White syndrome and in ventricular tachycardia by radionuclide ventriculography: phase analysis of double-angulated integrated single photon emission computed tomography (SPECT)

British Heart Journal, 1993-03, Vol.69 (3), p.201-210

1993

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Collagen VI related muscle disorders

Journal of Medical Genetics, 2005-09, Vol.42 (9), p.673-685

2005

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Global trends in neglected tropical disease control and elimination: impact on child health

Archives of disease in childhood, 2013-08, Vol.98 (8), p.635-641

2013

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Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

Journal of medical genetics, 2010-09, Vol.47 (9), p.623-630

2010

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A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia

Journal of medical genetics, 2008-12, Vol.45 (12), p.827-831

2008

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The revised Ghent nosology for the Marfan syndrome

Journal of medical genetics, 2010-07, Vol.47 (7), p.476-485

2010

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Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

Journal of medical genetics, 2009-08, Vol.46 (8), p.562-568

2009

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The molecular genetics of Marfan syndrome and related microfibrillopathies

Journal of Medical Genetics, 2000-01, Vol.37 (1), p.9-25

2000

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Studying the epigenome using next generation sequencing

Journal of medical genetics, 2011-11, Vol.48 (11), p.721-730

2011

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Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

Journal of medical genetics, 2010-01, Vol.47 (1), p.38-48

2010

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Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

Journal of medical genetics, 2008-10, Vol.45 (10), p.622-631

2008

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The number of people with glaucoma worldwide in 2010 and 2020

British journal of ophthalmology, 2006-03, Vol.90 (3), p.262-267

2006

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Inter- and intraobserver variation in the analysis of optic disc images: comparison of the Heidelberg retina tomograph and computer assisted planimetry

British journal of ophthalmology, 1999-06, Vol.83 (6), p.664-669

1999

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New aspects of an anti-tumour drug: sorafenib efficiently inhibits HCV replication

Gut, 2009-12, Vol.58 (12), p.1644-1653

2009

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Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

Journal of medical genetics, 2002-06, Vol.39 (6), p.382-386

2002

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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

Journal of medical genetics, 2010-08, Vol.47 (8), p.507-512

2010

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Infliximab for the treatment of refractory scleritis

British journal of ophthalmology, 2010-05, Vol.94 (5), p.579-583

2010

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Sulphate transporter gene mutations in apparently isolated club foot

Journal of medical genetics, 2001-03, Vol.38 (3), p.191-192

2001

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Journal of medical genetics, 2007-02, Vol.44 (2), p.89-98

2007

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The effect of personality on measures of quality of life related to vision in glaucoma patients

Cytokine expression in serum and cerebrospinal fluid in non-inflammatory polyneuropathies

Inhibition of leukotriene B4-induced CD11B/CD18 (Mac-1) expression by BIIL 284, a new long acting LTB4 receptor antagonist, in patients with rheumatoid arthritis

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation

The deletion of six amino acids at the C-terminus of the α1(II) chain causes overmodification of type II and type XI collagen : further evidence for the association between small deletions in COL2A1 and Kniest dysplasia

Clinical variability of osteogenesis imperfecta linked to COL1A 2 and associated with a structural defect in the type I collagen molecule

Non-invasive three-dimensional localisation of arrhythmogenic foci in Wolff-Parkinson-White syndrome and in ventricular tachycardia by radionuclide ventriculography: phase analysis of double-angulated integrated single photon emission computed tomography (SPECT)

Collagen VI related muscle disorders

Global trends in neglected tropical disease control and elimination: impact on child health

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions

A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia

The revised Ghent nosology for the Marfan syndrome

Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

The molecular genetics of Marfan syndrome and related microfibrillopathies

Studying the epigenome using next generation sequencing

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands

Mosaicism in sporadic neurofibromatosis type 1: variations on a theme common to other hereditary cancer syndromes?

The number of people with glaucoma worldwide in 2010 and 2020

Inter- and intraobserver variation in the analysis of optic disc images: comparison of the Heidelberg retina tomograph and computer assisted planimetry

New aspects of an anti-tumour drug: sorafenib efficiently inhibits HCV replication

Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

Infliximab for the treatment of refractory scleritis

Sulphate transporter gene mutations in apparently isolated club foot

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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