检索结果 - Monica Armengol
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Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom 由 Nikolas Pontikos, Gavin Arno, Neringa Jurkutė, Elena Schiff, Rola Ba‐Abbad, Samantha Malka, Ainoa Gimenez, Michalis Georgiou, Genevieve Wright, Monica Armengol, Hannah Knight, Menachem Katz, Mariya Moosajee, Patrick Yu‐Wai‐Man, Anthony T. Moore, Michel Michaelides, Andrew R. Webster, Omar A. Mahroo
出版 2020Artigo -
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A clinical and molecular characterisation of CRB1-associated maculopathy 由 Kamron Khan, Anthony G. Robson, Omar A. Mahroo, Gavin Arno, Chris F. Inglehearn, Monica Armengol, Naushin Waseem, Graham E. Holder, Keren Carss, Lucy F. Raymond, Andrew R. Webster, Anthony T. Moore, Martin McKibbin, Maria M. van Genderen, James A. Poulter, Michel Michaelides
出版 2018Artigo
相关主题
Biology
Genetics
Medicine
Gene
ABCA4
Allele
Cohort
Compound heterozygosity
Computational biology
Diabetes mellitus
Endocrinology
Evolutionary biology
Exome
Exome sequencing
Fluorescein angiography
Fundus (uterus)
Fundus photography
Internal medicine
Maculopathy
Mutation
Ophthalmology
Pathology
Phenotype
Retinal
Retinopathy
Retrospective cohort study
Visual acuity