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David Stuart Millar

Cardiff University

54

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1433

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Cyclin-dependent–like kinase 5 is required for pain signaling in human sensory neurons and mouse models

2020 Science Translational Medicine
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The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.

2020 Human Genetics
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The generation of an induced pluripotent stem cell line (DCGi001-A) from skin fibroblasts of an individual with FOXG1 syndrome carrying the c.460dupG variation in the FOXG1 gene

2020 Stem Cell Research
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An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene

2010 Human Genomics
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A gene conversion hotspot in the human growth hormone (GH1) gene promoter

2009 Human Mutation
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A novel dysfunctional protein C (Protein C Padua 2) associated with a thrombotic tendency: substitution of Cys for Arg-1 results in a strongly reduced affinity for binding of Ca++

2008 British Journal of Haematology
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Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population

2008 Molecular and Cellular Endocrinology
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Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke

2006 Human Genetics
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A novel GH variant (Ile179Met) exhibits a decreased ability to activate the ERK pathway

2004
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The susceptibility of growth hormone missense variants to proteolytic degradation

2004
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