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X
Mackay, Donna S.
3188  Ergebnisse:
Personensuche X
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1

Exome Sequencing Identifies a Missense Variant in EFEMP1 Co..:

Mackay, Donna S. ; Bennett, Thomas M. ; Shiels, Alan.
PLOS ONE.  10 (2015)  7 - p. e0132529 , 2015
Link: https://doi.org/10.1371/..
 
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2

Exome sequencing identifies novel and recurrent mutations i..:

Mackay, Donna S ; Bennett, Thomas M ; Culican, Susan M.
Human Genomics.  8 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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3

Mutation of the Melastatin-Related Cation Channel, TRPM3, U..:

Bennett, Thomas M. ; Mackay, Donna S. ; Siegfried, Carla J...
PLoS ONE.  9 (2014)  8 - p. e104000 , 2014
Link: https://doi.org/10.1371/..
 
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4

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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5

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/..
 
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6

A Longitudinal Study of Stargardt Disease: Clinical and Ele..:

Fujinami, Kaoru ; Lois, Noemi ; Davidson, Alice E....
American Journal of Ophthalmology.  155 (2013)  6 - p. 1075-1088.e13 , 2013
Link: https://doi.org/10.1016/..
 
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7

A novel α-synuclein missense mutation in Parkinson disease:

Proukakis, Christos ; Dudzik, Christopher G. ; Brier, Timothy...
Neurology.  80 (2013)  11 - p. 1062-1064 , 2013
Link: https://doi.org/10.1212/..
 
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8

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/..
 
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9

RP1L1Variants are Associated with a Spectrum of Inherited R..:

Davidson, Alice E. ; Sergouniotis, Panagiotis I. ; Mackay, Donna S....
Human Mutation.  34 (2013)  3 - p. 506-514 , 2013
Link: https://doi.org/10.1002/..
 
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10

Focus on Molecules: Cytochrome P450 family 4, subfamily V, ..:

Mackay, Donna S. ; Halford, Stephanie
Experimental Eye Research.  102 (2012)  - p. 111-112 , 2012
Link: https://doi.org/10.1016/..
 
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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/..
 
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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/..
 
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13

Focus on Molecules: Centrosomal protein 290 (CEP290):

Moradi, Phillip ; Davies, Wayne L. ; Mackay, Donna S...
Experimental Eye Research.  92 (2011)  5 - p. 316-317 , 2011
Link: https://doi.org/10.1016/..
 
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14

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...
 
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15

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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