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1 . Academic Journal
Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome
저자
by
Joel T. Gibson
;
Omid Sadeghi-Alavijeh
;
Daniel P. Gale
;
Hansjörg Rothe
;
Genomics England Research Consortium
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-11 (2022)
Open Access (DOAJ)
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7 . Academic Journal
Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome
저자
by
Joel T. Gibson
;
Mary Huang
;
Marina Shenelli Croos Dabrera
;
Krushnam Shukla
;
Hansjörg Rothe
, et al.
소스
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
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7 . Academic Journal
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves
저자
by
Melanie MY Chan
;
Omid Sadeghi-Alavijeh
;
Filipa M Lopes
;
Alina C Hilger
;
Horia C Stanescu
, et al.
소스
eLife, Vol 11 (2022)
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7 . Academic Journal
Crescentic glomerulonephritis with anti-GBM antibody but no glomerular deposition
저자
by
Omid Sadeghi-Alavijeh
;
Scott Henderson
;
Paul Bass
;
Terence Cook
;
Kirsten DeGroot
, et al.
소스
BMC Nephrology, Vol 19, Iss 1, Pp 1-6 (2018)
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7 . Academic Journal
Service evaluation of the implementation of a digitally-enabled care pathway for the recognition and management of acute kidney injury [version 2; referees: 2 approved]
저자
by
Alistair Connell
;
Hugh Montgomery
;
Stephen Morris
;
Claire Nightingale
;
Sarah Stanley
, et al.
소스
F1000Research, Vol 6 (2017)
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7 . Academic Journal
Service evaluation of the implementation of a digitally-enabled care pathway for the recognition and management of acute kidney injury [version 1; referees: 2 approved]
저자
by
Alistair Connell
;
Hugh Montgomery
;
Stephen Morris
;
Claire Nightingale
;
Sarah Stanley
, et al.
소스
F1000Research, Vol 6 (2017)
Open Access (DOAJ)
Scopus
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7 .
Common risk variants in AHI1 are associated with childhood steroid sensitive nephrotic syndrome
저자
by
Mallory L. Downie
;
Sanjana Gupta
;
Catalin Voinescu
;
Adam P. Levine
;
Omid Sadeghi-Alavijeh
, et al.
소스
Kidney International Reports
.
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7 .
Shared genetic risk across different presentations of gene test–negative idiopathic nephrotic syndrome
저자
by
Mallory L. Downie
;
Sanjana Gupta
;
Melanie M. Y. Chan
;
Omid Sadeghi-Alavijeh
;
Jingjing Cao
, et al.
소스
Pediatric Nephrology
. 38:1793-1800
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7 .
Common risk variants in AHI1 are associated with childhood steroid-sensitive nephrotic syndrome
저자
by
Mallory L Downie
;
Sanjana Gupta
;
Catalin Voinescu
;
Adam P Levine
;
Omid Sadeghi-Alavijeh
, et al.
소스
요약보기
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7 .
Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome
저자
by
Leslie Burnett
;
Melanie M. Y. Chan
;
Helen Storey
;
Judy Savige
;
Rachel Fieldhouse
, et al.
소스
Journal of the American Society of Nephrology
. 32:2273-2290
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