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Bioinformatics (Oxford, England)
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June 24, 2024
FastHPOCR: pragmatic, fast, and accurate concept recognition using the human phenotype ontology
Tudor Groza, Dylan Gration, Gareth Baynam, 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.
Frontiers in Pediatrics
|
November 29, 2023
Surfacing undiagnosed disease: consideration, counting and coding
Megan F Baxter, Michele Hansen, Dylan Gration, et al.
American Journal of Human Genetics
|
April 17, 2025
First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case
Tudor Groza, Warittha Rayabsri, Dylan Gration, et al.
Pharmacoepidemiology and Drug Safety
|
June 3, 2024
Use of privacy-preserving record linkage to examine the dispensing of pharmaceutical benefits scheme medicines to pregnant women in Western Australia
Erin Kelty, Michele Hansen, Sean Randall, et al.
BMC Medical Informatics and Decision Making
|
January 31, 2024
An evaluation of GPT models for phenotype concept recognition
Tudor Groza, Harry Caufield, Dylan Gration, et al.
Clinical Genetics
|
June 1, 2022
Further evidence for distinct traits associated with RBM10 missense variants
Cathryn Poulton, Gareth Baynam, Kye Pugh, et al.
American Journal of Medical Genetics. Part A
|
August 29, 2018
Silver Russel syndrome in an aboriginal patient from Australia
Cathryn Poulton, Dimitar Azmanov, Vanessa Atkinson, et al.
Neurology. Genetics
|
February 12, 2020
Defining and expanding the phenotype of <i>QARS</i>-associated developmental epileptic encephalopathy
Katrine M Johannesen, Diana Mitter, Robert Janowski, et al.
Frontiers in Genetics
|
August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Christoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
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.
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.
Frontiers in Pediatrics
|
November 29, 2023
Surfacing undiagnosed disease: consideration, counting and coding
Megan F Baxter, Michele Hansen, Dylan Gration, et al.
American Journal of Human Genetics
|
April 17, 2025
First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case
Tudor Groza, Warittha Rayabsri, Dylan Gration, et al.
Pharmacoepidemiology and Drug Safety
|
June 3, 2024
Use of privacy-preserving record linkage to examine the dispensing of pharmaceutical benefits scheme medicines to pregnant women in Western Australia
Erin Kelty, Michele Hansen, Sean Randall, et al.
BMC Medical Informatics and Decision Making
|
January 31, 2024
An evaluation of GPT models for phenotype concept recognition
Tudor Groza, Harry Caufield, Dylan Gration, et al.
Clinical Genetics
|
June 1, 2022
Further evidence for distinct traits associated with RBM10 missense variants
Cathryn Poulton, Gareth Baynam, Kye Pugh, et al.
American Journal of Medical Genetics. Part A
|
August 29, 2018
Silver Russel syndrome in an aboriginal patient from Australia
Cathryn Poulton, Dimitar Azmanov, Vanessa Atkinson, et al.
Neurology. Genetics
|
February 12, 2020
Defining and expanding the phenotype of <i>QARS</i>-associated developmental epileptic encephalopathy
Katrine M Johannesen, Diana Mitter, Robert Janowski, et al.
Frontiers in Genetics
|
August 17, 2019
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
Christoffer Nellåker, Fowzan S Alkuraya, Gareth Baynam, et al.
Page
of 2