检索结果 - Arno, Gavin

Letter to the Editor 由 Arno, Gavin, Comeglio, Paolo, Child, Anne H

获取全文 获取全文

Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance 由 Ellingford, Jamie M., Hufnagel, Robert B., Arno, Gavin

获取全文 获取全文 获取全文

Introduction to the special issue on Ophthalmic Genetics: Vision in 2020 由 Hufnagel, Robert B., Walter, Michael A., Arno, Gavin

获取全文 获取全文 获取全文

The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye 由 Lima Cunha, Dulce, Arno, Gavin, Corton, Marta, Moosajee, Mariya

获取全文 获取全文 获取全文

Ocular genetics in the genomics age 由 Walter, Michael A., Rezaie, Tayebeh, Hufnagel, Robert B., Arno, Gavin

获取全文 获取全文 获取全文

Practical guide to genetic screening for inherited eye diseases 由 Méjécase, Cécile, Malka, Samantha, Guan, Zeyu, Slater, Amy, Arno, Gavin, Moosajee, Mariya

获取全文 获取全文 获取全文

A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome 由 Sureka, Dimple, Stheneur, Chantal, Odent, Sylvie, Arno, Gavin, Murphy, Daniel, Bernstein, Jonathan A.

获取全文 获取全文 获取全文

Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card 由 Yu-Wai-Man, Cynthia, Arno, Gavin, Brookes, John, Garcia-Feijoo, Julian, Khaw, Peng Tee, Moosajee, Mariya

获取全文 获取全文 获取全文

Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy 由 Mahroo, Omar A., Arno, Gavin, Ba-Abbad, Rola, Downes, Susan M., Bird, Alan, Webster, Andrew R.

获取全文 获取全文 获取全文

Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa 由 Afshar, Farid, Arno, Gavin, Ba-Abbad, Rola, Esposti, Simona Degli, Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.

获取全文 获取全文 获取全文

Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients 由 de Carvalho, Emanuel R., Robson, Anthony G., Arno, Gavin, Boon, Camiel J.F., Webster, Andrew A., Michaelides, Michel

获取全文 获取全文 获取全文

Isolated rod dysfunction associated with a novel genotype of CNGB1 由 Ba-Abbad, Rola, Holder, Graham E., Robson, Anthony G., Neveu, Magella M., Waseem, Naushin, Arno, Gavin, Webster, Andrew R.

获取全文 获取全文 获取全文

Phenogenon: Gene to phenotype associations for rare genetic diseases 由 Pontikos, Nikolas, Murphy, Cian, Moghul, Ismail, Arno, Gavin, Fujinami, Kaoru, Fujinami, Yu, Sumodhee, Dayyanah, Downes, Susan, Webster, Andrew, Yu, Jing

获取全文 获取全文 获取全文

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy 由 Ba-Abbad, Rola, Robson, Anthony G., Mahroo, Omar A., Wright, Genevieve, Schiff, Elena, Duignan, Emma S., Michaelides, Michel, Arno, Gavin, Webster, Andrew R.

获取全文 获取全文 获取全文

Panel‐based genetic testing for inherited retinal disease screening 176 genes 由 Sheck, Leo H. N., Esposti, Simona D., Mahroo, Omar A., Arno, Gavin, Pontikos, Nikolas, Wright, Genevieve, Webster, Andrew R., Khan, Kamron N., Michaelides, Michel

获取全文 获取全文 获取全文

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches 由 Jurkute, Neringa, Majander, Anna, Bowman, Richard, Votruba, Marcela, Abbs, Stephen, Acheson, James, Lenaers, Guy, Amati-Bonneau, Patrizia, Moosajee, Mariya, Arno, Gavin, Yu-Wai-Man, Patrick

获取全文 获取全文 获取全文

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies 由 Bouzia, Zaina, Georgiou, Michalis, Hull, Sarah, Robson, Anthony G., Fujinami, Kaoru, Rotsos, Tryfon, Pontikos, Nikolas, Arno, Gavin, Webster, Andrew R., Hardcastle, Alison J., Fiorentino, Alessia, Michaelides, Michel

获取全文 获取全文 获取全文

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance 由 Jurkute, Neringa, D'Esposito, Fabiana, Robson, Anthony G., Pitceathly, Robert D. S., Cordeiro, Francesca, Raymond, F. Lucy, Moore, Anthony T., Michaelides, Michel, Yu-Wai-Man, Patrick, Webster, Andrew R., Arno, Gavin

获取全文 获取全文 获取全文

Benign Yellow Dot Maculopathy - a new macular phenotype 由 Borman, Arundhati Dev, Rachitskaya, Aleksandra, Suzani, Martina, Sisk, Robert A., Ahmed, Zubair M., Holder, Graham E., Cipriani, Valentina, Arno, Gavin, Webster, Andrew R., Hufnagel, Robert B., Berrocal, Audina, Moore, Anthony T.

获取全文 获取全文 获取全文

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data 由 Cipriani, Valentina, Pontikos, Nikolas, Arno, Gavin, Sergouniotis, Panagiotis I., Lenassi, Eva, Thawong, Penpitcha, Danis, Daniel, Michaelides, Michel, Webster, Andrew R., Moore, Anthony T., Robinson, Peter N., Jacobsen, Julius O.B., Smedley, Damian

获取全文 获取全文 获取全文