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A randomized controlled trial of a self-guided mobile app targeting repetitive negative thought to prevent depression in university students: study protocol of the Nurture-U Reducing Worry prevention trial

BMC psychiatry, 2024-10, Vol.24 (1), p.649-13, Article 649

2024

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Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Human molecular genetics, 2012-06, Vol.21 (12), p.2768-2778

2012

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Refining the Amsterdam Criteria and Bethesda Guidelines: Testing Algorithms for the Prediction of Mismatch Repair Mutation Status in the Familial Cancer Clinic

Journal of clinical oncology, 2004-12, Vol.22 (24), p.4934-4943

2004

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Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours

Clinical endocrinology (Oxford), 2006-03, Vol.64 (3), p.299-306

2006

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A complex endocrine conundrum

Familial cancer, 2013-09, Vol.12 (3), p.577-580

2013

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Decreased spontaneous activity and altered evoked nociceptive response of rat thalamic submedius neurons to lumbar vertebra thrust

Experimental brain research, 2017-09, Vol.235 (9), p.2883-2892

2017

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Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα11 Mutation

Journal of bone and mineral research, 2018-01, Vol.33 (1), p.32-41

2018

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How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

Journal of inherited metabolic disease, 2004-01, Vol.27 (2), p.179-186

2004

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The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification

Journal of medical genetics, 2024-09, Vol.61 (10), p.983-991

2024

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The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels

Journal of medical genetics, 2002-09, Vol.39 (9), p.e57-57

2002

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Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

Journal of medical genetics, 2003-05, Vol.40 (5), p.380-384

2003

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A common 2 bp deletion mutation in the glucose-6-phosphatase gene in indian patients with glycogen storage disease type Ia

Journal of inherited metabolic disease, 2001-08, Vol.24 (4), p.517-518

2001

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SHORT REPORT: A common 2 bp deletion mutation in the glucose‐6‐phosphatase gene in Indian patients with glycogen storage disease type Ia

Journal of inherited metabolic disease, 2001-07, Vol.24 (4), p.517-518

2001

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Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations

Journal of inherited metabolic disease, 2000-11, Vol.23 (7), p.669-676

2000

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Green Worlds of Renaissance Venice

Cranston, Jodi

1, 2019

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Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism

Human molecular genetics, 2010-05, Vol.19 (10), p.2028-2038

2010

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Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial

American journal of medical genetics. Part A, 2004-07, Vol.128A (3), p.285-293

2004

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Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy

European journal of pediatrics, 2004-10, Vol.163 (10), p.589-594

2004

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Special issue in honour of Landon Rabern

Discrete mathematics, 2023-11, Vol.346 (11), p.113507, Article 113507

2023

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Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia : relationship with plasma lipid traits, heart disease risk and utility in relative tracing

Journal of molecular medicine (Berlin, Germany), 2006-03, Vol.84 (3), p.203-214

2006

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Soluble interleukin-2 receptor is a thyroid hormone-dependent early-response marker in the treatment of thyrotoxicosis

Clinical and Diagnostic Laboratory Immunology, 1997-09, Vol.4 (5), p.583-586

1997

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Defective expression of the interleukin-2/interleukin-15 receptor β subunit leads to a natural killer cell–deficient form of severe combined immunodeficiency

Blood, 2001-08, Vol.98 (3), p.877-879

2001

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Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

Human mutation, 2001-10, Vol.18 (4), p.255-263

2001

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Degradation of copper-plated silicon solar cells with damp heat stress

Progress in photovoltaics, 2020-08, Vol.28 (11)

2020

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X‐Linked lymphoproliferative disease: three atypical cases

Clinical and experimental immunology, 2001-10, Vol.126 (1), p.126-130

2001

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A randomized controlled trial of a self-guided mobile app targeting repetitive negative thought to prevent depression in university students: study protocol of the Nurture-U Reducing Worry prevention trial

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

Refining the Amsterdam Criteria and Bethesda Guidelines: Testing Algorithms for the Prediction of Mismatch Repair Mutation Status in the Familial Cancer Clinic

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours

A complex endocrine conundrum

Decreased spontaneous activity and altered evoked nociceptive response of rat thalamic submedius neurons to lumbar vertebra thrust

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss‐of‐Function Gα11 Mutation

How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification

The intron 14 2140+5G>A variant in the low density lipoprotein receptor gene has no effect on plasma cholesterol levels

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

A common 2 bp deletion mutation in the glucose-6-phosphatase gene in indian patients with glycogen storage disease type Ia

SHORT REPORT: A common 2 bp deletion mutation in the glucose‐6‐phosphatase gene in Indian patients with glycogen storage disease type Ia

Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations

Green Worlds of Renaissance Venice

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism

Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial

Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy

Special issue in honour of Landon Rabern

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia : relationship with plasma lipid traits, heart disease risk and utility in relative tracing

Soluble interleukin-2 receptor is a thyroid hormone-dependent early-response marker in the treatment of thyrotoxicosis

Defective expression of the interleukin-2/interleukin-15 receptor β subunit leads to a natural killer cell–deficient form of severe combined immunodeficiency

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

Degradation of copper-plated silicon solar cells with damp heat stress

X‐Linked lymphoproliferative disease: three atypical cases

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