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American Journal of Medical Genetics. Part A
|
May 7, 2015
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti
Sarah Hull, Gavin Arno, Penelope Thomson, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
September 1, 2020
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients
Juliana Maria Ferraz Sallum, Fabiana Louise Motta, Gavin Arno, et al.
Ophthalmology. Retina
|
July 18, 2020
Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients
Emanuel R de Carvalho, Anthony G Robson, Gavin Arno, et al.
The British Journal of Ophthalmology
|
January 30, 2016
The ophthalmic presentation of Hermansky-Pudlak syndrome 6
Sarah Hull, Gavin Arno, Graham E Holder, et al.
American Journal of Ophthalmology Case Reports
|
April 13, 2019
Isolated rod dysfunction associated with a novel genotype of <i>CNGB1</i>
Rola Ba-Abbad, Graham E Holder, Anthony G Robson, et al.
Experimental Eye Research
|
January 18, 2012
Focus on molecules: ADAMTSL4
Aman Chandra, Leon D'Cruz, Jose A Aragon-Martin, et al.
Ophthalmic Genetics
|
August 14, 2020
Macula-predominant retinopathy associated with biallelic variants in <i>RDH12</i>
Rola Ba-Abbad, Gavin Arno, Anthony G Robson, et al.
Trends in Genetics : TIG
|
August 7, 2022
Phenotype-aware prioritisation of rare Mendelian disease variants
Catherine Kelly, Anita Szabo, Nikolas Pontikos, et al.
Investigative Ophthalmology & Visual Science
|
February 27, 2024
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease
Malena Daich Varela, Elena Schiff, Samantha Malka, et al.
Plos One
|
April 10, 2020
Phenogenon: Gene to phenotype associations for rare genetic diseases
Nikolas Pontikos, Cian Murphy, Ismail Moghul, et al.
Page
of 19
Search research articles
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Showing results (21-30 of 185) with videos related to
Sort By:
Page
of 19
American Journal of Medical Genetics. Part A
|
May 7, 2015
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti
Sarah Hull, Gavin Arno, Penelope Thomson, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
|
September 1, 2020
Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients
Juliana Maria Ferraz Sallum, Fabiana Louise Motta, Gavin Arno, et al.
Ophthalmology. Retina
|
July 18, 2020
Enhanced S-Cone Syndrome: Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients
Emanuel R de Carvalho, Anthony G Robson, Gavin Arno, et al.
The British Journal of Ophthalmology
|
January 30, 2016
The ophthalmic presentation of Hermansky-Pudlak syndrome 6
Sarah Hull, Gavin Arno, Graham E Holder, et al.
American Journal of Ophthalmology Case Reports
|
April 13, 2019
Isolated rod dysfunction associated with a novel genotype of <i>CNGB1</i>
Rola Ba-Abbad, Graham E Holder, Anthony G Robson, et al.
Experimental Eye Research
|
January 18, 2012
Focus on molecules: ADAMTSL4
Aman Chandra, Leon D'Cruz, Jose A Aragon-Martin, et al.
Ophthalmic Genetics
|
August 14, 2020
Macula-predominant retinopathy associated with biallelic variants in <i>RDH12</i>
Rola Ba-Abbad, Gavin Arno, Anthony G Robson, et al.
Trends in Genetics : TIG
|
August 7, 2022
Phenotype-aware prioritisation of rare Mendelian disease variants
Catherine Kelly, Anita Szabo, Nikolas Pontikos, et al.
Investigative Ophthalmology & Visual Science
|
February 27, 2024
PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease
Malena Daich Varela, Elena Schiff, Samantha Malka, et al.
Plos One
|
April 10, 2020
Phenogenon: Gene to phenotype associations for rare genetic diseases
Nikolas Pontikos, Cian Murphy, Ismail Moghul, et al.
Page
of 19