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Paediatrics & Child Health
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February 3, 2026
Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative study
Michael P Mackley, Salma Shickh, Whiwon Lee, et al.
European Journal of Human Genetics : EJHG
|
March 23, 2017
Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, et al.
European Journal of Human Genetics : EJHG
|
July 21, 2020
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes
Elizabeth Ormondroyd, Andrew R Harper, Kate L Thomson, et al.
Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis
|
July 1, 2015
Complete mitochondrial genomes for Icelus spatula, Aspidophoroides olrikii and Leptoclinus maculatus: pan-Arctic marine fishes from Canadian waters
Taylor Swanburg, John B Horne, Shauna Baillie, et al.
European Journal of Human Genetics : EJHG
|
January 10, 2026
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing
Michael P Mackley, Megan A Dickson, Anna Szuto, et al.
Nature Medicine
|
November 27, 2025
Determining the value of genomics in healthcare
Ilias Goranitis, Robin Z Hayeems, Hadley Stevens Smith, et al.
European Journal of Human Genetics : EJHG
|
August 22, 2025
Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation
Michael P Mackley, Pankaj B Agrawal, Sara S Ali, et al.
Investigative Ophthalmology & Visual Science
|
February 7, 2025
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel
Sarah van der Ende, Karen Bedard, Karin Wallace, et al.
JAMA Ophthalmology
|
August 16, 2014
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations
Johane M Robitaille, Roxanne M Gillett, Marissa A LeBlanc, et al.
BMJ Open
|
March 27, 2026
Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study
Daniel Assamad, Abigail Hansen, Katharine Fooks, et al.
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Search research articles
Search
Showing results (11-20 of 22) with videos related to
Sort By:
Page
of 3
Paediatrics & Child Health
|
February 3, 2026
Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative study
Michael P Mackley, Salma Shickh, Whiwon Lee, et al.
European Journal of Human Genetics : EJHG
|
March 23, 2017
Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study
Elizabeth Ormondroyd, Michael P Mackley, Edward Blair, et al.
European Journal of Human Genetics : EJHG
|
July 21, 2020
Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes
Elizabeth Ormondroyd, Andrew R Harper, Kate L Thomson, et al.
Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis
|
July 1, 2015
Complete mitochondrial genomes for Icelus spatula, Aspidophoroides olrikii and Leptoclinus maculatus: pan-Arctic marine fishes from Canadian waters
Taylor Swanburg, John B Horne, Shauna Baillie, et al.
European Journal of Human Genetics : EJHG
|
January 10, 2026
Experiencing acute genomic care: perspectives from parents in the neonatal and paediatric intensive care units towards rapid genomic sequencing
Michael P Mackley, Megan A Dickson, Anna Szuto, et al.
Nature Medicine
|
November 27, 2025
Determining the value of genomics in healthcare
Ilias Goranitis, Robin Z Hayeems, Hadley Stevens Smith, et al.
European Journal of Human Genetics : EJHG
|
August 22, 2025
Genomic sequencing technologies for rare disease in mainstream healthcare: the current state of implementation
Michael P Mackley, Pankaj B Agrawal, Sara S Ali, et al.
Investigative Ophthalmology & Visual Science
|
February 7, 2025
Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel
Sarah van der Ende, Karen Bedard, Karin Wallace, et al.
JAMA Ophthalmology
|
August 16, 2014
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations
Johane M Robitaille, Roxanne M Gillett, Marissa A LeBlanc, et al.
BMJ Open
|
March 27, 2026
Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study
Daniel Assamad, Abigail Hansen, Katharine Fooks, et al.
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of 3