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Maria M van Genderen

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Investigative Ophthalmology & Visual Science|February 21, 2025

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.

Ophthalmology. Retina|March 22, 2022

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneLeo C Hahn, Michalis Georgiou, Hind Almushattat, et al.

NPJ Genomic Medicine|April 17, 2025

Variants in CFAP410 cause a range of retinal and skeletal phenotypesRyan E Schmidt, Amy E Pohodich, David Birch, et al.

Journal of Medical Genetics|March 12, 2024

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.

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Search research articles

Showing results (71-80 of 74) with videos related to

Sort By:

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You have reached the last page of results.This site can display upto 74 results.

Investigative Ophthalmology & Visual Science|February 21, 2025

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesLude Moekotte, Joke H de Boer, Sanne Hiddingh, et al.

Ophthalmology. Retina|March 22, 2022

The Natural History of Leber Congenital Amaurosis and Cone-Rod Dystrophy Associated with Variants in the GUCY2D GeneLeo C Hahn, Michalis Georgiou, Hind Almushattat, et al.

NPJ Genomic Medicine|April 17, 2025

Variants in CFAP410 cause a range of retinal and skeletal phenotypesRyan E Schmidt, Amy E Pohodich, David Birch, et al.

Journal of Medical Genetics|March 12, 2024

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.

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