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The Journal of Biological Chemistry
|
June 17, 2005
Generation and characterization of mutant cell lines defective in gamma-secretase processing of Notch and amyloid precursor protein
Annie Olry, Patricia Chastagner, Alain Israël, et al.
European Journal of Human Genetics : EJHG
|
December 2, 2020
Reply to E. Vicente et al
Ana Rath, Deborah M Lambert, Annie Olry, et al.
Human Mutation
|
March 17, 2012
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users
Ana Rath, Annie Olry, Ferdinand Dhombres, et al.
The Journal of Cell Biology
|
July 9, 2004
Monoubiquitination and endocytosis direct gamma-secretase cleavage of activated Notch receptor
Neetu Gupta-Rossi, Emmanuelle Six, Odile LeBail, et al.
Orphanet Journal of Rare Diseases
|
August 17, 2019
Correction to: An ontological foundation for ocular phenotypes and rare eye diseases
Panagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, et al.
Orphanet Journal of Rare Diseases
|
January 11, 2019
An ontological foundation for ocular phenotypes and rare eye diseases
Panagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, et al.
European Journal of Human Genetics : EJHG
|
September 19, 2019
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
Stéphanie Nguengang Wakap, Deborah M Lambert, Annie Olry, et al.
Orphanet Journal of Rare Diseases
|
January 27, 2024
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project
Céline Angin, Monica Mazzucato, Stefanie Weber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 6, 2020
Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes
Willie H Chang, Pouria Mashouri, Alexander X Lozano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2020
Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes
Willie H Chang, Pouria Mashouri, Alexander X Lozano, et al.
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of 2
Search research articles
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Showing results (1-10 of 17) with videos related to
Sort By:
Page
of 2
The Journal of Biological Chemistry
|
June 17, 2005
Generation and characterization of mutant cell lines defective in gamma-secretase processing of Notch and amyloid precursor protein
Annie Olry, Patricia Chastagner, Alain Israël, et al.
European Journal of Human Genetics : EJHG
|
December 2, 2020
Reply to E. Vicente et al
Ana Rath, Deborah M Lambert, Annie Olry, et al.
Human Mutation
|
March 17, 2012
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users
Ana Rath, Annie Olry, Ferdinand Dhombres, et al.
The Journal of Cell Biology
|
July 9, 2004
Monoubiquitination and endocytosis direct gamma-secretase cleavage of activated Notch receptor
Neetu Gupta-Rossi, Emmanuelle Six, Odile LeBail, et al.
Orphanet Journal of Rare Diseases
|
August 17, 2019
Correction to: An ontological foundation for ocular phenotypes and rare eye diseases
Panagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, et al.
Orphanet Journal of Rare Diseases
|
January 11, 2019
An ontological foundation for ocular phenotypes and rare eye diseases
Panagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, et al.
European Journal of Human Genetics : EJHG
|
September 19, 2019
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
Stéphanie Nguengang Wakap, Deborah M Lambert, Annie Olry, et al.
Orphanet Journal of Rare Diseases
|
January 27, 2024
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project
Céline Angin, Monica Mazzucato, Stefanie Weber, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 6, 2020
Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes
Willie H Chang, Pouria Mashouri, Alexander X Lozano, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 20, 2020
Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes
Willie H Chang, Pouria Mashouri, Alexander X Lozano, et al.
Page
of 2