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Perveen, Rahat
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1

MIR204 n.37C>T variant as a cause of chorioretinal dystroph..:

Jedlickova, Jana ; Vajter, Marie ; Barta, Tomas...
Clinical Genetics.  104 (2023)  4 - p. 418-426 , 2023
Link: https://doi.org/10.1111/..
 
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2

Mast cell infiltration of the choroid and protease release ..:

Mcharg, Selina ; Booth, Laura ; Perveen, Rahat...
Proceedings of the National Academy of Sciences.  119 (2022)  20 - p. , 2022
Link: https://doi.org/10.1073/..
 
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3

Biallelic TMEM260 variants cause truncus arteriosus, with o..:

Pagnamenta, Alistair T. ; Jackson, Adam ; Perveen, Rahat...
Clinical Genetics.  101 (2021)  1 - p. 127-133 , 2021
Link: https://doi.org/10.1111/..
 
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4

Oral-Facial-Digital Syndrome Type 1: Further Clinical and M..:

Faily, Sara ; Perveen, Rahat ; Chandler, Kate.
The Cleft Palate-Craniofacial Journal.  57 (2020)  5 - p. 606-615 , 2020
Link: https://doi.org/10.1177/..
 
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5

Expanding the genetic and phenotypic spectrum of branched‐c..:

Knerr, Ina ; Colombo, Roberto ; Urquhart, Jill...
Journal of Inherited Metabolic Disease.  42 (2019)  5 - p. 809-817 , 2019
Link: https://doi.org/10.1002/..
 
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6

C-reactive protein and pentraxin-3 binding of factor H-like..:

Swinkels, Maurice ; Zhang, Justine H. ; Tilakaratna, Viranga...
Scientific Reports.  8 (2018)  1 - p. , 2018
Link: https://doi.org/10.1038/..
 
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7

Confirmation that mutations in DDX59 cause an autosomal rec..:

Faily, Sara ; Perveen, Rahat ; Urquhart, Jill..
European Journal of Medical Genetics.  60 (2017)  10 - p. 527-532 , 2017
Link: https://doi.org/10.1016/..
 
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8

The role of small in-frame insertions/deletions in inherite..:

Sergouniotis, Panagiotis I. ; Barton, Stephanie J. ; Waller, Sarah...
Orphanet Journal of Rare Diseases.  11 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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9

Whole Genome Sequencing Increases Molecular Diagnostic Yiel..:

Ellingford, Jamie M. ; Barton, Stephanie ; Bhaskar, Sanjeev...
Ophthalmology.  123 (2016)  5 - p. 1143-1150 , 2016
Link: https://doi.org/10.1016/..
 
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10

Mutations inSIPA1L3cause eye defects through disruption of ..:

Greenlees, Rebecca ; Mihelec, Marija ; Yousoof, Saira...
Human Molecular Genetics.  24 (2015)  20 - p. 5789-5804 , 2015
Link: https://doi.org/10.1093/..
 
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11

Clinical and molecular genetic findings in autosomal domina..:

Sergouniotis, Panagiotis I. ; Perveen, Rahat ; Thiselton, Dawn L....
neurogenetics.  16 (2014)  1 - p. 69-75 , 2014
Link: https://doi.org/10.1007/..
 
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12

Familial retinal detachment associated with COL2A1 exon 2 a..:

Edwards, Thomas L ; Burt, Benjamin O ; Black, Graeme CM...
Clinical & Experimental Ophthalmology.  40 (2012)  5 - p. 476-483 , 2012
Link: https://doi.org/10.1111/..
 
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13

Impaired Binding of the Age-related Macular Degeneration-as..:

Clark, Simon J. ; Perveen, Rahat ; Hakobyan, Svetlana...
Journal of Biological Chemistry.  285 (2010)  39 - p. 30192-30202 , 2010
Link: https://doi.org/10.1074/..
 
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14

Missense and nonsense mutations in the alternatively-splice..:

McAlinden, Audrey ; Majava, Marja ; Bishop, Paul N....
Human Mutation.  29 (2008)  1 - p. 83-90 , 2008
Link: https://doi.org/10.1002/..
 
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15

Characterization of a familial t(16;22) balanced translocat..:

Jamieson, Robyn V. ; Farrar, Nicola ; Stewart, Katrina...
Human Mutation.  28 (2007)  10 - p. 968-977 , 2007
Link: https://doi.org/10.1002/..
 
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