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Incidence of Congenital Hypothyroidism Over 37 Years in Ireland

Pediatrics (Evanston), 2018-10, Vol.142 (4)

2018

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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Journal of Inherited Metabolic Disease, 2017-01, Vol.40 (1), p.49-74

2017

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Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28

European journal of pediatrics, 2010-08, Vol.169 (8), p.941-949

2010

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Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

American journal of medical genetics. Part A, 2018-05, Vol.176 (5), p.1115-1127

2018

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Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study

BMJ (Online), 2004-06, Vol.328 (7455), p.1535

2004

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Vitamin D Status in Irish Children and Adolescents: Value of Fortification and Supplementation

Clinical pediatrics, 2014-12, Vol.53 (14), p.1345-1351

2014

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Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28

European journal of pediatrics, 2010-08, Vol.169 (8), p.941-949

2010

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l-2-Hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration

Journal of neurology, 2010, Vol.257 (1), p.146-148

2010

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Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2254-2257

2012

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Can neonatal TSH screening reflect trends in population iodine intake?

Thyroid (New York, N.Y.), 2008-08, Vol.18 (8), p.883

2008

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The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited

European journal of human genetics : EJHG, 2002-09, Vol.10 (9), p.530-538

2002

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Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC

Molecular genetics and metabolism, 2004-02, Vol.81 (2), p.133-136

2004

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Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population

Molecular genetics and metabolism, 2004-08, Vol.82 (4), p.345-347

2004

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Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection

Human mutation, 2001-05, Vol.17 (5), p.432-432

2001

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Methylenetetrahydrofolate reductase thermolabile variant and oral clefts

American journal of medical genetics, 1999-09, Vol.86 (1), p.71-74

1999

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Impact of the MTHFR C677T polymorphism on risk of neural tube defects: Case-control study

BMJ. British medical journal (International ed.), 2004-06, Vol.328 (7455), p.1535

International edition, 2004

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Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia

Atherosclerosis, 1993-11, Vol.103 (2), p.171-180

1993

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Development of an automated kinetic Jaffé method designed to minimise bilirubin interference in plasma creatinine assays

Clinica chimica acta, 1987-09, Vol.168 (2), p.239-246

1987

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Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash

American Journal of Medical Genetics Part A, 2012, Vol.158A (9), p.2254-2257

2012

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Methylenetetrahydrofolate reductase thermolabile variant and oral clefts

American journal of medical genetics, 1999-09, Vol.86 (1), p.71-74

1999

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L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration

Journal of neurology, 2010, Vol.257 (1), p.146-148

2010

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Sustained virologic control in SIV⁺ macaques after antiretroviral and α₄β₇ antibody therapy

Science (American Association for the Advancement of Science), 2016-10, Vol.354 (6309), p.197-202

2016

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Dietary Meat Intake in Relation to Colorectal Adenoma in Asymptomatic Women

The American journal of gastroenterology, 2009-05, Vol.104 (5), p.1231-1240

2009

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Dietary Carotenoids, Serum β-Carotene, and Retinol and Risk of Lung Cancer in the Alpha-Tocopherol, Beta-Carotene Cohort Study

American journal of epidemiology, 2002-09, Vol.156 (6), p.536-547

2002

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Incidence of Congenital Hypothyroidism Over 37 Years in Ireland

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28

Clinical, biochemical, and genetic features of four patients with short‐chain enoyl‐CoA hydratase (ECHS1) deficiency

Impact of the MTHFR C677T polymorphism on risk of neural tube defects: case-control study

Vitamin D Status in Irish Children and Adolescents: Value of Fortification and Supplementation

Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28

l-2-Hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration

Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash

Can neonatal TSH screening reflect trends in population iodine intake?

Genetic diversity within the R408W phenylketonuria mutation lineages in Europe

The mutation spectrum of hyperphenylalaninaemia in the Republic of Ireland: the population history of the Irish revisited

Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC

Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population

Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection

Methylenetetrahydrofolate reductase thermolabile variant and oral clefts

Impact of the MTHFR C677T polymorphism on risk of neural tube defects: Case-control study

Cholesterol-lowering drug therapy in a patient with receptor-negative homozygous familial hypercholesterolaemia

Development of an automated kinetic Jaffé method designed to minimise bilirubin interference in plasma creatinine assays

Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash

Methylenetetrahydrofolate reductase thermolabile variant and oral clefts

L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration

Sustained virologic control in SIV⁺ macaques after antiretroviral and α₄β₇ antibody therapy

Dietary Meat Intake in Relation to Colorectal Adenoma in Asymptomatic Women

Dietary Carotenoids, Serum β-Carotene, and Retinol and Risk of Lung Cancer in the Alpha-Tocopherol, Beta-Carotene Cohort Study

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