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topic_facet:"Research Support, Non-U.S. Gov't"
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PubPharm (20)
1
Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression
enthalten in:
Pediatric nephrology (Berlin, Germany)
| 2023
von
Trautmann, A.
|
Seide, S.
|
Lipska-Ziętkiewicz, B.
| +26
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2
Personalized health risk assessment based on single-cell RNA sequencing analysis of a male with 45, X/48, XYYY karyotype
enthalten in:
Scientific reports
| 2022
von
Koczkowska, M.
|
Jąkalski, M.
|
Birkholz-Walerzak, D.
| +19
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3
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
enthalten in:
Human mutation
| 2022
von
Scala, M.
|
Drouot, N.
|
MacLennan, S.
| +28
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4
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy
enthalten in:
Kidney international
| 2022
von
Drovandi, S.
|
Lipska-Ziętkiewicz, B.
|
Ozaltin, F.
| +78
CommentIn: Kidney Int. 2022 Sep;102(3):471-473. - PMID 35988934
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5
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency
enthalten in:
Kidney international
| 2022
von
Drovandi, S.
|
Lipska-Ziętkiewicz, B.
|
Ozaltin, F.
| +80
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6
Genetics in chronic kidney disease : conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
enthalten in:
Kidney international
| 2022
von
KDIGO Conference Participants
|
Köttgen, A.
|
Cornec-Le Gall, E.
| +60
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7
The 2019 and 2021 International Workshops on Alport Syndrome
enthalten in:
European journal of human genetics : EJHG
| 2022
von
Daga, S.
|
Ding, J.
|
Deltas, C.
| +23
ErratumIn: Eur J Hum Genet. 2023 Jan 24;:. - PMID 36690832
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8
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome
enthalten in:
Scientific reports
| 2022
von
Gibson, J.
|
Huang, M.
|
Shenelli Croos Dabrera, M.
| +92
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9
Genetic testing in the diagnosis of chronic kidney disease : recommendations for clinical practice
enthalten in:
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
| 2022
von
Knoers, N.
|
Antignac, C.
|
Bergmann, C.
| +8
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10
Guidelines for Genetic Testing and Management of Alport Syndrome
enthalten in:
Clinical journal of the American Society of Nephrology : CJASN
| 2022
von
Savige, J.
|
Lipska-Zietkiewicz, B.
|
Watson, E.
| +41
ErratumIn: Clin J Am Soc Nephrol. 2023 Apr 1;18(4):510. - PMID 37026751
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Thema: Research Support, Non-U.S. Gov't
Medienart
20
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20
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20
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Zeitschriftentitel
4
Kidney international
2
Scientific reports
1
Alzheimer's research & therapy
1
American journal of kidney diseases : the offic...
1
BMC nephrology
1
Clinical dysmorphology
1
Clinical journal of the American Society of Nep...
1
European journal of human genetics : EJHG
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1
Nephrology, dialysis, transplantation : officia...
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Pediatric diabetes
1
Pediatric nephrology (Berlin, Germany)
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Research Support, Non-U.S. Gov't
19
Journal Article
5
Case Reports
4
Collagen Type IV
3
COL4A5 protein, human
3
genetic testing
2
1339-63-5
2
18q deletion syndrome
2
Alport syndrome
2
Autoantigens
2
COL4A5
2
Steroids
2
Ubiquinone
2
chronic kidney disease
2
coenzyme Q10
2
genetic kidney disease
2
mitochondria
2
type IV collagen alpha3 chain
1
148971-36-2
1
APOE
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Erscheinungszeitraum
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2020-
6
2010-2019
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