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Apparent prevention of neural tube defects by periconceptional vitamin supplementation

International journal of epidemiology, 2011-10, Vol.40 (5), p.1146-1154

2011

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Allelic and Locus Heterogeneity in Inherited Venous Malformations

Human molecular genetics, 1999-07, Vol.8 (7), p.1279-1289

1999

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Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome)

Journal of medical genetics, 1996-09, Vol.33 (9), p.779-782

1996

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Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance

Thorax, 1998-02, Vol.53 (2), p.151-152

1998

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Genetic linkage of familial expansile osteolysis to chromosome 18q

Human molecular genetics, 1994-02, Vol.3 (2), p.359-361

1994

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A molecular variant of angiotensinogen is associated with diabetic nephropathy in IDDM

Diabetes (New York, N.Y.), 1996-09, Vol.45 (9), p.1204-1208

1996

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ACE gene typing

The Lancet (British edition), 1994-04, Vol.343 (8901), p.851-851

1994

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Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis

Journal of medical genetics, 1997-08, Vol.34 (8), p.632-636

1997

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The epidemiology of Huntington's disease in Northern Ireland

Journal of medical genetics, 1995-07, Vol.32 (7), p.524-530

1995

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Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities

Health technology assessment (Winchester, England), 2003, Vol.7 (10), p.1-146

2003

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Mutations in Keratin K9 in Kindreds with Epidermolytic Palmoplantar Keratoderma and Epidemiology in Northern Ireland

Journal of investigative dermatology, 1998-12, Vol.111 (6), p.1207-1209

1998

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A supernumerary chromosome 20, identified by FISH, in a male with azoospermia-cause or coincidence?

American journal of medical genetics, 2003-03, Vol.117A (2), p.188-190

2003

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Investigation of a cluster of children with Down's syndrome born to mothers who had attended a school in Dundalk, Ireland

Occupational and environmental medicine (London, England), 2000-12, Vol.57 (12), p.793-804

2000

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What has happened to gene therapy?

European journal of pediatrics, 2000-12, Vol.159 Suppl 3 (S3), p.S240-S242

Nevin, N C

2000

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Female Germline Mosaicism in Tuberous Sclerosis Confirmed by Molecular Genetic Analysis

Human molecular genetics, 1997-12, Vol.6 (13), p.2265-2269

1997

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Laryngeal atresia or stenosis presenting as second-trimester fetal ascites-diagnosis and pathology in three independent cases

Prenatal diagnosis, 1998-09, Vol.18 (9), p.963-967

1998

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A Novel Mutation in the Helix Termination Peptide of Keratin 5 Causing Epidermolysis Bullosa Simplex Dowling–Meara

Journal of investigative dermatology, 1997-12, Vol.109 (6), p.815-816

1997

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The prevalence of inherited neuromuscular disease in Northern Ireland

Neuromuscular disorders : NMD, 1996, Vol.6 (1), p.69-73

1996

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Evidence for a second genetic locus in Carney complex

British journal of dermatology (1951), 1998-10, Vol.139 (4), p.572-576

1998

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De novo direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2

Clinical genetics, 1998-07, Vol.54 (1), p.65-69

1998

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Tumour necrosis factor microsatellites show association with multiple sclerosis

Journal of the neurological sciences, 1997-03, Vol.147 (1), p.21-25

1997

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Phenylketonuria and the peoples of Northern Ireland

Human genetics, 1997-08, Vol.100 (2), p.189-194

1997

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Transplacental early amniocentesis and pregnancy outcome

BJOG : an international journal of obstetrics and gynaecology, 1998-02, Vol.105 (2), p.228-230

1998

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Phenylketonuria mutation analysis of Northern Ireland : a rapid stepwise approach

American journal of human genetics, 1995-12, Vol.57 (6), p.1311-1317

1995

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Absence of PAX6 Gene Mutations in Gillespie Syndrome (Partial Aniridia, Cerebellar Ataxia, and Mental Retardation)

Genomics (San Diego, Calif.), 1994-01, Vol.19 (1), p.145-148

1994

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Apparent prevention of neural tube defects by periconceptional vitamin supplementation

Allelic and Locus Heterogeneity in Inherited Venous Malformations

Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome)

Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance

Genetic linkage of familial expansile osteolysis to chromosome 18q

A molecular variant of angiotensinogen is associated with diabetic nephropathy in IDDM

ACE gene typing

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis

The epidemiology of Huntington's disease in Northern Ireland

Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities

Mutations in Keratin K9 in Kindreds with Epidermolytic Palmoplantar Keratoderma and Epidemiology in Northern Ireland

A supernumerary chromosome 20, identified by FISH, in a male with azoospermia-cause or coincidence?

Investigation of a cluster of children with Down's syndrome born to mothers who had attended a school in Dundalk, Ireland

What has happened to gene therapy?

Female Germline Mosaicism in Tuberous Sclerosis Confirmed by Molecular Genetic Analysis

Laryngeal atresia or stenosis presenting as second-trimester fetal ascites-diagnosis and pathology in three independent cases

A Novel Mutation in the Helix Termination Peptide of Keratin 5 Causing Epidermolysis Bullosa Simplex Dowling–Meara

The prevalence of inherited neuromuscular disease in Northern Ireland

Evidence for a second genetic locus in Carney complex

De novo direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2

Tumour necrosis factor microsatellites show association with multiple sclerosis

Phenylketonuria and the peoples of Northern Ireland

Transplacental early amniocentesis and pregnancy outcome

Phenylketonuria mutation analysis of Northern Ireland : a rapid stepwise approach

Absence of PAX6 Gene Mutations in Gillespie Syndrome (Partial Aniridia, Cerebellar Ataxia, and Mental Retardation)

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