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Povey, Sue
111  results:
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1

Comparison of the functional and structural characteristics..:

Dufner Almeida, Luiz G. ; Nanhoe, Santoesha ; Zonta, Andrea...
Human Mutation.  41 (2019)  4 - p. 759-773 , 2019
Link: https://doi.org/10.1002/..
 
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2

Rare single gene disorders: estimating baseline prevalence ..:

Congenital Disorders Expert Group ; Blencowe, Hannah ; Moorthie, Sowmiya...
Journal of Community Genetics.  9 (2018)  4 - p. 397-406 , 2018
Link: https://doi.org/10.1007/..
 
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3

E. B. Robson, PhD (1928- 2016). Galton Professor of Human G..:

Povey, Sue ; Hopkinson, David
Annals of Human Genetics.  81 (2017)  4 - p. 174-175 , 2017
Link: https://doi.org/10.1111/..
 
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4

Persistent severe polyuria after renal transplant:

Wong, Timothy ; Laing, Chris ; Ekong, Rosemary..
Clinical Kidney Journal.  9 (2015)  2 - p. 180-183 , 2015
Link: https://doi.org/10.1093/..
 
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5

Molecular genetics research in sub-Saharan Africa: how can ..:

Bekele, Endashaw ; Bodmer, Walter F ; Bradman, Neil...
The HUGO Journal.  8 (2014)  1 - p. , 2014
Link: https://doi.org/10.1186/..
 
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6

The Human Variome Project: ensuring the quality of DNA vari..:

Savige, Judy ; Dalgleish, Raymond ; Cotton, Richard GH...
Pediatric Nephrology.  30 (2014)  11 - p. 1893-1901 , 2014
Link: https://doi.org/10.1007/..
 
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7

The 2014 International Workshop on Alport Syndrome:

Miner, Jeffrey H. ; Baigent, Colin ; Flinter, Frances...
Kidney International.  86 (2014)  4 - p. 679-684 , 2014
Link: https://doi.org/10.1038/..
 
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8

Tuberous Sclerosis Complex Surveillance and Management: Rec..:

Krueger, Darcy A. ; Northrup, Hope ; Northrup, Hope...
Pediatric Neurology.  49 (2013)  4 - p. 255-265 , 2013
Link: https://doi.org/10.1016/..
 
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9

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosoma..:

Jaureguiberry, Graciana ; De la Dure-Molla, Muriel ; Parry, David...
Nephron Physiology.  122 (2013)  1-2 - p. 1-6 , 2013
Link: https://doi.org/10.1159/..
 
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10

Tuberous Sclerosis Complex Diagnostic Criteria Update: Reco..:

Northrup, Hope ; Krueger, Darcy A. ; Northrup, Hope...
Pediatric Neurology.  49 (2013)  4 - p. 243-254 , 2013
Link: https://doi.org/10.1016/..
 
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11

Identification of a region required for TSC1 stability by f..:

Mozaffari, Melika ; Hoogeveen-Westerveld, Marianne ; Kwiatkowski, David...
BMC Medical Genetics.  10 (2009)  1 - p. , 2009
Link: https://doi.org/10.1186/..
 
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12

Corrigendum to "A revised nomenclature for the human and ro..:

Khodiyar, Varsha K. ; Maltais, Lois J. ; Ruef, Barbara J....
Genomics.  93 (2009)  4 - p. 397 , 2009
Link: https://doi.org/10.1016/..
 
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13

The Human Variome Project:

Cotton, Richard G. H. ; Auerbach, Arleen D. ; Axton, Myles...
Science.  322 (2008)  5903 - p. 861-862 , 2008
Link: https://doi.org/10.1126/..
 
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14

The Human Variome Project:

Cotton, Richard G. H. ; Auerbach, Arleen D. ; Axton, Myles...
Science.  322 (2008)  5903 - p. 861-862 , 2008
Link: https://www.jstor.org/st..
 
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15

Extensive founder effect for distal renal tubular acidosis ..:

Nikali, Kaisu ; Vanegas, Juan J. ; Burley, Mari‐Wyn...
American Journal of Medical Genetics Part A.  146A (2008)  20 - p. 2709-2712 , 2008
Link: https://doi.org/10.1002/..
 
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