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American Journal of Medical Genetics. Part A
|
September 23, 2025
A Noncanonical Splice Variant in RTEL1 Responsible for Familial Pulmonary Fibrosis
Alexandre White-Brown, Aren Marshall, Xueqi Wang, et al.
BMJ Global Health
|
December 31, 2020
Categorisation and Minoritisation
Sujitha Selvarajah, Thilagawathi Abi Deivanayagam, Gideon Lasco, et al.
Pathology
|
September 1, 2023
Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury
Dina El Demellawy, Thomas Kovesi, Rachel Gowans, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 26, 2025
ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical record
Grace U Ediae, Alexandre White-Brown, Caitlin Chisholm, et al.
The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics
|
October 22, 2024
Blurring Boundaries: A Proposed Research Agenda for Ethical, Legal, Social, and Historical Studies at the Intersection of Infectious and Genetic Disease
Sheethal Jose, Juli Bollinger, Gail Geller, et al.
Annals of Clinical and Translational Neurology
|
April 7, 2025
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium
Alexanne Cuillerier, Giulia F Del Gobbo, Layla Mackay, et al.
BMJ Open
|
August 10, 2025
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist
Kaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie, et al.
Vaccine
|
November 8, 2020
The public's role in COVID-19 vaccination: Human-centered recommendations to enhance pandemic vaccine awareness, access, and acceptance in the United States
Monica Schoch-Spana, Emily K Brunson, Rex Long, et al.
Science Advances
|
August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Xiangbin Jia, Shujie Zhang, Senwei Tan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Taila Hartley, Deborah Marshall, Meryl Acker, et al.
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Search research articles
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Showing results (11-20 of 20) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 20 results.
American Journal of Medical Genetics. Part A
|
September 23, 2025
A Noncanonical Splice Variant in RTEL1 Responsible for Familial Pulmonary Fibrosis
Alexandre White-Brown, Aren Marshall, Xueqi Wang, et al.
BMJ Global Health
|
December 31, 2020
Categorisation and Minoritisation
Sujitha Selvarajah, Thilagawathi Abi Deivanayagam, Gideon Lasco, et al.
Pathology
|
September 1, 2023
Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injury
Dina El Demellawy, Thomas Kovesi, Rachel Gowans, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 26, 2025
ThinkRare: A search algorithm to identify patients with undiagnosed rare genetic disease in an electronic medical record
Grace U Ediae, Alexandre White-Brown, Caitlin Chisholm, et al.
The Journal of Law, Medicine & Ethics : a Journal of the American Society of Law, Medicine & Ethics
|
October 22, 2024
Blurring Boundaries: A Proposed Research Agenda for Ethical, Legal, Social, and Historical Studies at the Intersection of Infectious and Genetic Disease
Sheethal Jose, Juli Bollinger, Gail Geller, et al.
Annals of Clinical and Translational Neurology
|
April 7, 2025
FGF14 GAA Intronic Expansion in Unsolved Adult-Onset Ataxia in the Care4Rare Canada Consortium
Alexanne Cuillerier, Giulia F Del Gobbo, Layla Mackay, et al.
BMJ Open
|
August 10, 2025
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist
Kaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie, et al.
Vaccine
|
November 8, 2020
The public's role in COVID-19 vaccination: Human-centered recommendations to enhance pandemic vaccine awareness, access, and acceptance in the United States
Monica Schoch-Spana, Emily K Brunson, Rex Long, et al.
Science Advances
|
August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Xiangbin Jia, Shujie Zhang, Senwei Tan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 4, 2023
Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
Taila Hartley, Deborah Marshall, Meryl Acker, et al.
Page
of 2