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Frontiers in Genetics
|
April 19, 2024
Stigma associated with genetic testing for rare diseases-causes and recommendations
Gareth Baynam, Roy Gomez, Ritu Jain
American Journal of Medical Genetics. Part A
|
May 19, 2009
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation
Gareth Baynam, Jack Goldblatt, Lyn Schofield
Plos Medicine
|
February 26, 2026
Reimagining care of people living with rare diseases with artificial intelligence
Tudor Groza, Gareth Baynam, Saumya Shekhar Jamuar
Frontiers in Public Health
|
July 6, 2018
Changes to the Employers' Use of Genetic Information and Non-discrimination for Health Insurance in the USA: Implications for Australians
Gemma A Bilkey, Gareth Baynam, Caron Molster
The Yale Journal of Biology and Medicine
|
December 31, 2021
mEDUrare: Supporting Integrated Care for Rare Diseases by Better Connecting Health and Education Through Policy
Harleen Saggu, Caleb Jones, Amber Lewis, et al.
Bioinformatics (Oxford, England)
|
June 24, 2024
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology
Tudor Groza, Dylan Gration, Gareth Baynam, et al.
Nature Communications
|
November 23, 2019
Personalised analytics for rare disease diagnostics
Denise Anderson, Gareth Baynam, Jenefer M Blackwell, et al.
Lancet (London, England)
|
March 1, 2026
Language in rare disease: a call for systemic and empathetic action
Gareth Baynam, Kym M Boycott, Kirsten Johnson, et al.
Pediatric Dermatology
|
September 19, 2019
Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab
Cathryn Poulton, Dylan Gration, Kevin Murray, et al.
Orphanet Journal of Rare Diseases
|
December 25, 2021
Childhood rare diseases and the UN convention on the rights of the child
Lisa Matthews, Vaughan Chin, Marisa Taliangis, et al.
Page
of 18
Search research articles
Search
Showing results (11-20 of 178) with videos related to
Sort By:
Page
of 18
Frontiers in Genetics
|
April 19, 2024
Stigma associated with genetic testing for rare diseases-causes and recommendations
Gareth Baynam, Roy Gomez, Ritu Jain
American Journal of Medical Genetics. Part A
|
May 19, 2009
Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation
Gareth Baynam, Jack Goldblatt, Lyn Schofield
Plos Medicine
|
February 26, 2026
Reimagining care of people living with rare diseases with artificial intelligence
Tudor Groza, Gareth Baynam, Saumya Shekhar Jamuar
Frontiers in Public Health
|
July 6, 2018
Changes to the Employers' Use of Genetic Information and Non-discrimination for Health Insurance in the USA: Implications for Australians
Gemma A Bilkey, Gareth Baynam, Caron Molster
The Yale Journal of Biology and Medicine
|
December 31, 2021
mEDUrare: Supporting Integrated Care for Rare Diseases by Better Connecting Health and Education Through Policy
Harleen Saggu, Caleb Jones, Amber Lewis, et al.
Bioinformatics (Oxford, England)
|
June 24, 2024
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology
Tudor Groza, Dylan Gration, Gareth Baynam, et al.
Nature Communications
|
November 23, 2019
Personalised analytics for rare disease diagnostics
Denise Anderson, Gareth Baynam, Jenefer M Blackwell, et al.
Lancet (London, England)
|
March 1, 2026
Language in rare disease: a call for systemic and empathetic action
Gareth Baynam, Kym M Boycott, Kirsten Johnson, et al.
Pediatric Dermatology
|
September 19, 2019
Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab
Cathryn Poulton, Dylan Gration, Kevin Murray, et al.
Orphanet Journal of Rare Diseases
|
December 25, 2021
Childhood rare diseases and the UN convention on the rights of the child
Lisa Matthews, Vaughan Chin, Marisa Taliangis, et al.
Page
of 18