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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 mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
European Journal of Human Genetics : EJHG
|
November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
L Faivre, G Collod-Beroud, B Callewaert, et al.
Neurogenetics
|
June 2, 2011
Call for participation in the neurogenetics consortium within the Human Variome Project
Andrea Haworth, Lars Bertram, Paola Carrera, et al.
Clinical Genetics
|
May 14, 2011
The new Ghent criteria for Marfan syndrome: what do they change?
L Faivre, G Collod-Beroud, L Adès, et al.
Pediatrics
|
January 2, 2009
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
Laurence Faivre, Alice Masurel-Paulet, Gwenaëlle Collod-Béroud, et al.
Disease Models & Mechanisms
|
November 9, 2011
Set points, settling points and some alternative models: theoretical options to understand how genes and environments combine to regulate body adiposity
John R Speakman, David A Levitsky, David B Allison, et al.
NPJ Genomic Medicine
|
November 18, 2025
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
Bioinformatics (Oxford, England)
|
June 30, 2023
KG-Hub-building and exchanging biological knowledge graphs
J Harry Caufield, Tim Putman, Kevin Schaper, et al.
Nature Reviews. Nephrology
|
September 17, 2020
Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project
Edison Ong, Lucy L Wang, Jennifer Schaub, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 19, 2025
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability
Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
Page
of 132
Search research articles
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Showing results (1251-1260 of 1,318) with videos related to
Sort By:
Page
of 132
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 mechanisms
Angharad M Roberts, Marina T DiStefano, Erin Rooney Riggs, et al.
European Journal of Human Genetics : EJHG
|
November 13, 2008
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
L Faivre, G Collod-Beroud, B Callewaert, et al.
Neurogenetics
|
June 2, 2011
Call for participation in the neurogenetics consortium within the Human Variome Project
Andrea Haworth, Lars Bertram, Paola Carrera, et al.
Clinical Genetics
|
May 14, 2011
The new Ghent criteria for Marfan syndrome: what do they change?
L Faivre, G Collod-Beroud, L Adès, et al.
Pediatrics
|
January 2, 2009
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations
Laurence Faivre, Alice Masurel-Paulet, Gwenaëlle Collod-Béroud, et al.
Disease Models & Mechanisms
|
November 9, 2011
Set points, settling points and some alternative models: theoretical options to understand how genes and environments combine to regulate body adiposity
John R Speakman, David A Levitsky, David B Allison, et al.
NPJ Genomic Medicine
|
November 18, 2025
RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets
Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
Bioinformatics (Oxford, England)
|
June 30, 2023
KG-Hub-building and exchanging biological knowledge graphs
J Harry Caufield, Tim Putman, Kevin Schaper, et al.
Nature Reviews. Nephrology
|
September 17, 2020
Modelling kidney disease using ontology: insights from the Kidney Precision Medicine Project
Edison Ong, Lucy L Wang, Jennifer Schaub, et al.
Medrxiv : the Preprint Server for Health Sciences
|
May 19, 2025
Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability
Adam S L Graefe, Filip Rehburg, Samer Alkarkoukly, et al.
Page
of 132