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Ana Rath

Showing results (31-40 of 46) with videos related to

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Clinical and Translational Science|August 11, 2017
Future of Rare Diseases Research 2017-2027: An IRDiRC PerspectiveChristopher P Austin, Christine M Cutillo, Lilian P L Lau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Medrxiv : the Preprint Server for Health Sciences|April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
European Journal of Human Genetics : EJHG|August 13, 2021
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Orphanet Journal of Rare Diseases|March 31, 2026
Coding systems and monitoring practices across the ERN ReCONNET: insights from a comprehensive survey and unmet needsMatilde Bandeira, Diana Marinello, Sofia C Barreira, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Nature Genetics|April 11, 2018
Plain-language medical vocabulary for precision diagnosisNicole A Vasilevsky, Erin D Foster, Mark E Engelstad, et al.
Gigascience|September 20, 2024
An interconnected data infrastructure to support large-scale rare disease researchLennart F Johansson, Steve Laurie, Dylan Spalding, et al.
F1000Research|August 9, 2021
The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for researchDavid Salgado, Irina M Armean, Michael Baudis, et al.
American Journal of Human Genetics|May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic DiseasesKym M Boycott, Ana Rath, Jessica X Chong, et al.
Pageof 5

Showing results (31-40 of 46) with videos related to

Sort By:
Pageof 5
Clinical and Translational Science|August 11, 2017
Future of Rare Diseases Research 2017-2027: An IRDiRC PerspectiveChristopher P Austin, Christine M Cutillo, Lilian P L Lau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 20, 2023
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
Medrxiv : the Preprint Server for Health Sciences|April 17, 2023
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanismsAngharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
European Journal of Human Genetics : EJHG|August 13, 2021
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Orphanet Journal of Rare Diseases|March 31, 2026
Coding systems and monitoring practices across the ERN ReCONNET: insights from a comprehensive survey and unmet needsMatilde Bandeira, Diana Marinello, Sofia C Barreira, et al.
European Journal of Human Genetics : EJHG|June 2, 2021
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseasesBirte Zurek, Kornelia Ellwanger, Lisenka E L M Vissers, et al.
Nature Genetics|April 11, 2018
Plain-language medical vocabulary for precision diagnosisNicole A Vasilevsky, Erin D Foster, Mark E Engelstad, et al.
Gigascience|September 20, 2024
An interconnected data infrastructure to support large-scale rare disease researchLennart F Johansson, Steve Laurie, Dylan Spalding, et al.
F1000Research|August 9, 2021
The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for researchDavid Salgado, Irina M Armean, Michael Baudis, et al.
American Journal of Human Genetics|May 6, 2017
International Cooperation to Enable the Diagnosis of All Rare Genetic DiseasesKym M Boycott, Ana Rath, Jessica X Chong, et al.
Pageof 5