E-LIB Suche - Ergebnisse für: Borman, Arundhati Dev

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Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,

Aleman, Tomas S. ; Amati-Bonneau, Patrizia ; Arveiler, Benoît... - p. xi-xiv , 2022

2

Nonaccidental injury presenting as unilateral retinal detac..:

Sornalingam, Krishanthy ; Borman, Arundhati Dev ; Ashworth, Jane
Journal of American Association for Pediatric Ophthalmology and Strabismus. 22 (2018) 3 - p. 231-233 , 2018

Link: https://doi.org/10.1016/..

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Mutations disrupting the Kennedy phosphatidylcholine pathwa..:

Payne, Felicity ; Lim, Koini ; Girousse, Amandine...
Proceedings of the National Academy of Sciences of the United States of America. 111 (2014) 24 - p. 8901-8906 , 2014

Link: https://www.jstor.org/st..

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A Homozygous Mutation in theTUBGene Associated with Retinal..:

Borman, Arundhati Dev ; Pearce, Laura R. ; Mackay, Donna S....
Human Mutation. 35 (2013) 3 - p. 289-293 , 2013

Link: https://doi.org/10.1002/..

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NMNAT1 mutations cause Leber congenital amaurosis:

Falk, Marni J ; Zhang, Qi ; Nakamaru-Ogiso, Eiko...
Nature Genetics. 44 (2012) 9 - p. 1040-1045 , 2012

Link: https://doi.org/10.1038/..

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Mutations disrupting the Kennedy phosphatidylcholine pathwa..:

Payne, Felicity ; Lim, Koini ; Girousse, Amandine...
Proceedings of the National Academy of Sciences. 111 (2014) 24 - p. 8901-8906 , 2014

Link: https://doi.org/10.1073/..

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Congenital optic nerve aplasia:

Dev Borman, Arundhati ; Thompson, Dorothy A. ; Reddy, M. Ashwin...
Journal of American Association for Pediatric Ophthalmology and Strabismus. 16 (2012) 1 - p. e14 , 2012

Link: https://doi.org/10.1016/..

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Renal cell carcinoma with an unusual presentation:

West, Hilary ; Wilson, Noel ; Shrotri, Nitin..
Nephrology Dialysis Transplantation. 21 (2005) 2 - p. 541-542 , 2005

Link: https://doi.org/10.1093/..

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Benign Yellow Dot Maculopathy A New Macular Phenotype:

Borman, Arundhati Dev ; Rachitskaya, Aleksandra ; Suzani, Martina...
qt3qj908sj. , 2017

Link: https://escholarship.org..

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Benign Yellow Dot Maculopathy - a new macular phenotype:

Borman, Arundhati Dev ; Rachitskaya, Aleksandra ; Suzani, Martina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503697/. , 2017

Link: http://www.ncbi.nlm.nih...

11

A Homozygous Mutation in the TUB Gene Associated with Retin..:

Borman, Arundhati Dev ; Pearce, Laura R ; Mackay, Donna S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

Link: http://www.ncbi.nlm.nih...

12

A homozygous mutation in the TUB gene associated with retin..:

Borman, Arundhati Dev ; Pearce, Laura R ; Mackay, Donna S...
https://www.repository.cam.ac.uk/handle/1810/247054. , 2014

Link: https://www.repository.c..

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Screening of a large cohort of Leber congenital amaurosis a..:

Mackay, Donna S ; Borman, Arundhati Dev ; Sui, Ruifang...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2013

Link: http://www.ncbi.nlm.nih...

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Screening of a Large Cohort of Leber Congenital Amaurosis a..:

Mackay, Donna S ; Borman, Arundhati Dev ; Sui, Ruifang...
qt7m72w402. , 2013

Link: https://escholarship.org..

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NMNAT1 mutations cause Leber congenital amaurosis:

Falk, Marni J ; Zhang, Qi ; Nakamaru-Ogiso, Eiko...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3454532. , 2012

Link: http://www.ncbi.nlm.nih...