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Human Mutation
|
November 14, 2008
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
Pascal Escher, Peter Gouras, Raphaël Roduit, et al.
JMIR Research Protocols
|
May 26, 2025
ENABLE-App-Based Digital Capture and Intervention of Patient-Reported Quality of Life, Adverse Events, and Treatment Satisfaction in Breast Cancer: Protocol for a Randomized Controlled Trial
Thomas M Deutsch, Léa L Volmer, Manuel Feisst, et al.
Investigative Ophthalmology & Visual Science
|
April 16, 2010
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy
Michel Michaelides, Marie-Claire Gaillard, Pascal Escher, et al.
JMIR Research Protocols
|
June 11, 2025
Correction: ENABLE-App-Based Digital Capture and Intervention of Patient-Reported Quality of Life, Adverse Events, and Treatment Satisfaction in Breast Cancer: Protocol for a Randomized Controlled Trial
Thomas M Deutsch, Léa L Volmer, Manuel Feisst, et al.
Human Molecular Genetics
|
March 4, 2025
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.
Ophthalmic Research
|
July 30, 2024
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute
Giacomo Calzetti, Kerstin Schwarzwälder, Giorgia Ottonelli, et al.
Neuro-Oncology Practice
|
May 13, 2024
App-based assessment of patient-reported outcomes in the Molecular Tumor Board in the Center for Personalized Medicine-(TRACE)
Lorenz Dörner, Lucia Grosse, Felix Stange, et al.
The Journal of Clinical Investigation
|
July 26, 2008
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
Zhenglin Yang, Yali Chen, Concepcion Lillo, et al.
Page
of 5
Search research articles
Search
Showing results (41-50 of 48) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 48 results.
Human Mutation
|
November 14, 2008
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
Pascal Escher, Peter Gouras, Raphaël Roduit, et al.
JMIR Research Protocols
|
May 26, 2025
ENABLE-App-Based Digital Capture and Intervention of Patient-Reported Quality of Life, Adverse Events, and Treatment Satisfaction in Breast Cancer: Protocol for a Randomized Controlled Trial
Thomas M Deutsch, Léa L Volmer, Manuel Feisst, et al.
Investigative Ophthalmology & Visual Science
|
April 16, 2010
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy
Michel Michaelides, Marie-Claire Gaillard, Pascal Escher, et al.
JMIR Research Protocols
|
June 11, 2025
Correction: ENABLE-App-Based Digital Capture and Intervention of Patient-Reported Quality of Life, Adverse Events, and Treatment Satisfaction in Breast Cancer: Protocol for a Randomized Controlled Trial
Thomas M Deutsch, Léa L Volmer, Manuel Feisst, et al.
Human Molecular Genetics
|
March 4, 2025
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
Julio C Corral-Serrano, Veronika Vaclavik, Stijn Van de Sompele, et al.
Ophthalmic Research
|
July 30, 2024
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute
Giacomo Calzetti, Kerstin Schwarzwälder, Giorgia Ottonelli, et al.
Neuro-Oncology Practice
|
May 13, 2024
App-based assessment of patient-reported outcomes in the Molecular Tumor Board in the Center for Personalized Medicine-(TRACE)
Lorenz Dörner, Lucia Grosse, Felix Stange, et al.
The Journal of Clinical Investigation
|
July 26, 2008
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
Zhenglin Yang, Yali Chen, Concepcion Lillo, et al.
Page
of 5