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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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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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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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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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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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Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia

Gut, 2009-08, Vol.58 (8), p.1063-1069

2009

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Topical lignocaine for pain relief in acute otitis media: results of a double-blind placebo-controlled randomised trial

Archives of disease in childhood, 2008-01, Vol.93 (1), p.40-44

2008

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Anthropometry of patients with osteogenesis imperfecta

Archives of disease in childhood, 1999-06, Vol.80 (6), p.524-528

1999

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Control of matrix metalloproteinase production in human intestinal fibroblasts by interleukin 21

Gut, 2006-12, Vol.55 (12), p.1774-1780

2006

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Hereditary fructose intolerance

Journal of medical genetics, 1998-05, Vol.35 (5), p.353-365

1998

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Vertical cup/disc ratio in relation to optic disc size: its value in the assessment of the glaucoma suspect

British journal of ophthalmology, 1998-10, Vol.82 (10), p.1118-1124

1998

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Hepatitis C virus entry: possible targets for therapy

Gut, 2008-12, Vol.57 (12), p.1728-1737

2008

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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

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

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?

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

Sulphate transporter gene mutations in apparently isolated club foot

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

Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia

Topical lignocaine for pain relief in acute otitis media: results of a double-blind placebo-controlled randomised trial

Anthropometry of patients with osteogenesis imperfecta

Control of matrix metalloproteinase production in human intestinal fibroblasts by interleukin 21

Hereditary fructose intolerance

Vertical cup/disc ratio in relation to optic disc size: its value in the assessment of the glaucoma suspect

Hepatitis C virus entry: possible targets for therapy

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