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B Hufnagel

Showing results (71-80 of 156) with videos related to

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Ophthalmic Genetics|March 23, 2023
A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case reportEmile R Vieta-Ferrer, Ehsan Ullah, Delphine Blain, et al.
Investigative Ophthalmology & Visual Science|August 13, 2025
Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for CataractDima L Chaar, Chen Jiang, Sarah Y Coomson, et al.
Translational Vision Science & Technology|September 3, 2024
Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African AmericansAgnes C Owete, Raisa Ionin, Laryssa A Huryn, et al.
Human Molecular Genetics|March 3, 2016
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndromeSungkook Hong, Ping Hu, Juliana Marino, et al.
Clinical Genetics|May 15, 2025
Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPasesDiana Brightman, Nawaal Shinwari, Aleksey Porollo, et al.
Birth Defects Research|November 12, 2024
Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014Danielle L Mitchell, Tiffany M Chambers, A J Agopian, et al.
Ophthalmology|April 4, 2017
Benign Yellow Dot Maculopathy: A New Macular PhenotypeArundhati Dev Borman, Aleksandra Rachitskaya, Martina Suzani, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 29, 2020
Ophthalmic genetics in South AmericaMalena Daich Varela, Rene Moya, Patricio G Schlottmann, et al.
Investigative Ophthalmology & Visual Science|July 28, 2022
Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics ImagingTao Liu, Nancy Aguilera, Andrew J Bower, et al.
Molecular and Cellular Neurosciences|November 6, 2007
Math5 expression and function in the central auditory systemSara M Saul, Joseph A Brzezinski, Richard A Altschuler, et al.
Pageof 16

Showing results (71-80 of 156) with videos related to

Sort By:
Pageof 16
Ophthalmic Genetics|March 23, 2023
A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case reportEmile R Vieta-Ferrer, Ehsan Ullah, Delphine Blain, et al.
Investigative Ophthalmology & Visual Science|August 13, 2025
Whole Exome Sequencing Study Uncovers Novel Candidate Genes and Protein-Coding Variants for CataractDima L Chaar, Chen Jiang, Sarah Y Coomson, et al.
Translational Vision Science & Technology|September 3, 2024
Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African AmericansAgnes C Owete, Raisa Ionin, Laryssa A Huryn, et al.
Human Molecular Genetics|March 3, 2016
Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndromeSungkook Hong, Ping Hu, Juliana Marino, et al.
Clinical Genetics|May 15, 2025
Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPasesDiana Brightman, Nawaal Shinwari, Aleksey Porollo, et al.
Birth Defects Research|November 12, 2024
Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014Danielle L Mitchell, Tiffany M Chambers, A J Agopian, et al.
Ophthalmology|April 4, 2017
Benign Yellow Dot Maculopathy: A New Macular PhenotypeArundhati Dev Borman, Aleksandra Rachitskaya, Martina Suzani, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|August 29, 2020
Ophthalmic genetics in South AmericaMalena Daich Varela, Rene Moya, Patricio G Schlottmann, et al.
Investigative Ophthalmology & Visual Science|July 28, 2022
Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics ImagingTao Liu, Nancy Aguilera, Andrew J Bower, et al.
Molecular and Cellular Neurosciences|November 6, 2007
Math5 expression and function in the central auditory systemSara M Saul, Joseph A Brzezinski, Richard A Altschuler, et al.
Pageof 16