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Journal of Pediatric Genetics
|
September 15, 2016
A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome
Dimple Sureka, Chantal Stheneur, Sylvie Odent, et al.
Ophthalmic Genetics
|
January 5, 2020
Macular maldevelopment in <i>ATF6</i>-mediated retinal dysfunction
Markus Ritter, Gavin Arno, Rola Ba-Abbad, et al.
Ophthalmic Genetics
|
August 9, 2012
Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4
Aman Chandra, Jose Antonio Aragon-Martin, Saba Sharif, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
November 2, 2022
No strong evidence to date for an association between RIMS1 and retinal dystrophy
Omar A Mahroo, Maria Pilar Martin-Gutierrez, Michel Michaelides, et al.
Acta Ophthalmologica
|
December 30, 2014
Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy
Sarah Hull, Gavin Arno, Vincent Plagnol, et al.
Ophthalmic Genetics
|
June 9, 2016
Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas
Julius T Oatts, Sarah Hull, Michel Michaelides, et al.
European Journal of Human Genetics : EJHG
|
August 10, 2018
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card
Cynthia Yu-Wai-Man, Gavin Arno, John Brookes, et al.
Cardiovascular Research
|
October 3, 2003
Placental infection with Chlamydia pneumoniae and intrauterine growth restriction
Christina Baboonian, David A Smith, David Shapland, et al.
JAMA Ophthalmology
|
December 6, 2019
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy
Omar A Mahroo, Gavin Arno, Rola Ba-Abbad, et al.
Eye (London, England)
|
October 2, 2019
Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa
Farid Afshar, Gavin Arno, Rola Ba-Abbad, et al.
Page
of 19
Search research articles
Search
Showing results (11-20 of 185) with videos related to
Sort By:
Page
of 19
Journal of Pediatric Genetics
|
September 15, 2016
A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome
Dimple Sureka, Chantal Stheneur, Sylvie Odent, et al.
Ophthalmic Genetics
|
January 5, 2020
Macular maldevelopment in <i>ATF6</i>-mediated retinal dysfunction
Markus Ritter, Gavin Arno, Rola Ba-Abbad, et al.
Ophthalmic Genetics
|
August 9, 2012
Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4
Aman Chandra, Jose Antonio Aragon-Martin, Saba Sharif, et al.
Documenta Ophthalmologica. Advances in Ophthalmology
|
November 2, 2022
No strong evidence to date for an association between RIMS1 and retinal dystrophy
Omar A Mahroo, Maria Pilar Martin-Gutierrez, Michel Michaelides, et al.
Acta Ophthalmologica
|
December 30, 2014
Exome sequencing reveals ADAM9 mutations in a child with cone-rod dystrophy
Sarah Hull, Gavin Arno, Vincent Plagnol, et al.
Ophthalmic Genetics
|
June 9, 2016
Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas
Julius T Oatts, Sarah Hull, Michel Michaelides, et al.
European Journal of Human Genetics : EJHG
|
August 10, 2018
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card
Cynthia Yu-Wai-Man, Gavin Arno, John Brookes, et al.
Cardiovascular Research
|
October 3, 2003
Placental infection with Chlamydia pneumoniae and intrauterine growth restriction
Christina Baboonian, David A Smith, David Shapland, et al.
JAMA Ophthalmology
|
December 6, 2019
Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy
Omar A Mahroo, Gavin Arno, Rola Ba-Abbad, et al.
Eye (London, England)
|
October 2, 2019
Awareness of olfactory impairment in a cohort of patients with CNGB1-associated retinitis pigmentosa
Farid Afshar, Gavin Arno, Rola Ba-Abbad, et al.
Page
of 19