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American Journal of Medical Genetics. Part A
|
February 19, 2015
Anirdia-like phenotype caused by 6p25 dosage aberrations
Karthikeyan Arcot Sadagopan, Grace T Liu, Jenina E Capasso, et al.
Oman Journal of Ophthalmology
|
March 26, 2016
Organophosphate retinopathy
Hang Pham, Michelle D Lingao, Anuradha Ganesh, et al.
Oman Journal of Ophthalmology
|
April 3, 2023
Genetic testing: Getting it right
Diego I Paredes, Lorena M Haefeli, Onochie Okoye, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
June 11, 2015
Peters anomaly in cri-du-chat syndrome
William C Hope, Jose A Cordovez, Jenina E Capasso, et al.
Retinal Cases & Brief Reports
|
June 26, 2026
Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome
Lorena M Haefeli, Diego I Paredes, Celeste S Wyman, et al.
American Journal of Medical Genetics. Part A
|
January 3, 2023
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis
Amani Albakri, Phattrawan Pisuchpen, Jenina E Capasso, et al.
Ophthalmic Genetics
|
January 5, 2026
Novel variant in <i>FGFR2</i> in a family with anterior segment anomalies
Goura Chattannavar, Lorena M Haefeli, Rebecca Procopio, et al.
Ophthalmic Genetics
|
February 12, 2014
Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene
Jose A Cordovez, Elias I Traboulsi, Jenina E Capasso, et al.
Ophthalmic Genetics
|
October 15, 2024
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature
Goura Chattannavar, Marina Ger, Jeyapoorani Balasubramanian, et al.
European Journal of Human Genetics : EJHG
|
June 16, 2016
Spectrum of PEX1 and PEX6 variants in Heimler syndrome
Claire E L Smith, James A Poulter, Alex V Levin, et al.
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of 3
Search research articles
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Showing results (11-20 of 22) with videos related to
Sort By:
Page
of 3
American Journal of Medical Genetics. Part A
|
February 19, 2015
Anirdia-like phenotype caused by 6p25 dosage aberrations
Karthikeyan Arcot Sadagopan, Grace T Liu, Jenina E Capasso, et al.
Oman Journal of Ophthalmology
|
March 26, 2016
Organophosphate retinopathy
Hang Pham, Michelle D Lingao, Anuradha Ganesh, et al.
Oman Journal of Ophthalmology
|
April 3, 2023
Genetic testing: Getting it right
Diego I Paredes, Lorena M Haefeli, Onochie Okoye, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|
June 11, 2015
Peters anomaly in cri-du-chat syndrome
William C Hope, Jose A Cordovez, Jenina E Capasso, et al.
Retinal Cases & Brief Reports
|
June 26, 2026
Pathogenic Variants in HGSNAT associated with Autosomal Recessive Retinitis Pigmentosa without Overt Sanfilippo Syndrome
Lorena M Haefeli, Diego I Paredes, Celeste S Wyman, et al.
American Journal of Medical Genetics. Part A
|
January 3, 2023
Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis
Amani Albakri, Phattrawan Pisuchpen, Jenina E Capasso, et al.
Ophthalmic Genetics
|
January 5, 2026
Novel variant in <i>FGFR2</i> in a family with anterior segment anomalies
Goura Chattannavar, Lorena M Haefeli, Rebecca Procopio, et al.
Ophthalmic Genetics
|
February 12, 2014
Retinal Dystrophy with Intraretinal Cystoid Spaces Associated with Mutations in the Crumbs Homologue (CRB1) Gene
Jose A Cordovez, Elias I Traboulsi, Jenina E Capasso, et al.
Ophthalmic Genetics
|
October 15, 2024
Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature
Goura Chattannavar, Marina Ger, Jeyapoorani Balasubramanian, et al.
European Journal of Human Genetics : EJHG
|
June 16, 2016
Spectrum of PEX1 and PEX6 variants in Heimler syndrome
Claire E L Smith, James A Poulter, Alex V Levin, et al.
Page
of 3