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

1

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/..

2

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/..

3

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/..

4

Contributors:

, In: Clinical Ophthalmic Genetics and Genomics,

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

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

5

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/..

6

Reevaluation of the Retinal Dystrophy Due to Recessive Alle..:

Arno, Gavin ; Hull, Sarah ; Carss, Keren...
Investigative Opthalmology & Visual Science. 57 (2016) 11 - p. 4806 , 2016

Link: https://doi.org/10.1167/..

7

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..

8

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/..

9

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

Mackay, Donna S. ; Borman, Arundhati Dev ; Sui, Ruifang...
Human Mutation. 35 (2013) 1 - p. 150-150 , 2013

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

10

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

Mackay, Donna S. ; Borman, Arundhati Dev ; Sui, Ruifang...
Human Mutation. 34 (2013) 11 - p. 1537-1546 , 2013

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

11

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/..

12

Leber Congenital Amaurosis Associated with AIPL1: Challenge..:

Tan, Mei Hong ; Mackay, Donna S. ; Cowing, Jill...
PLoS ONE. 7 (2012) 3 - p. e32330 , 2012

Link: https://doi.org/10.1371/..

13

Mutations disrupting the Kennedy phosphatidylcholine pathwa..:

Payne, Felicity ; Lim, Koini ; Girousse, Amandine...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC. , 2014

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

14

RDH12 retinopathy: novel mutations and phenotypic descripti..:

Mackay, Donna S ; Dev Borman, Arundhati ; Moradi, Phillip...
qt6w0535dh. , 2011

Link: https://escholarship.org..

15

Benign Yellow Dot Maculopathy A New Macular Phenotype:

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

Link: https://escholarship.org..