Search Results - "TONKIN, Emma T"
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NIPBL , encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome
Published in Nature genetics (01-06-2004)“…Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by dysmorphic facial features, mental retardation, growth delay and limb…”
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Journal Article -
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The first competency based framework in genetics/genomics specifically for midwifery education and practice
Published in Nurse education in practice (01-11-2018)“…This paper details a competency framework to help address the need for structured guidance around genetic and genomic education and training for midwives. A…”
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Journal Article -
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“Walking in Their Shoes”: The effects of an immersive digital story intervention on empathy in nursing students
Published in Nursing open (01-09-2021)“…Aim To evaluate the effects of a novel, immersive digital story intervention on empathy. Design A randomized trial with three phases. Results A total of 238…”
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Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented (Clinical and Educational) Outcomes (2012-2022)
Published in Genes (27-10-2023)“…In the 20 years since the initial sequencing of the human genome, genomics has become increasingly relevant to nursing. We sought to chart the current state of…”
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A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3
Published in Human genetics (01-07-2004)“…Cornelia de Lange syndrome (CdLS) is a rare developmental malformation syndrome characterised by mental handicap, growth retardation, distinctive facial…”
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Journal Article -
6
Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented
Published in Genes (01-10-2023)“…In the 20 years since the initial sequencing of the human genome, genomics has become increasingly relevant to nursing. We sought to chart the current state of…”
Get full text
Journal Article