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PubPharm (67)
1
The role of multidisciplinary diagnostic and therapeutic model of care in Lamb-Shaffer syndrome - case report
enthalten in:
Journal of applied genetics
| 2024
von
Sajewicz-Radtke, U.
|
Łada-Maśko, A.
|
Lipowska, M.
| +3
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2
Correction : The 2019 and 2021 International workshops on Alport syndrome
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Daga, S.
|
Ding, J.
|
Deltas, C.
| +23
ErratumFor: Eur J Hum Genet. 2022 May;30(5):507-516. - PMID 35260866
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3
Correction : Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
enthalten in:
European journal of human genetics : EJHG
| 2024
von
Savige, J.
|
Storey, H.
|
Watson, E.
| +40
ErratumFor: Eur J Hum Genet. 2021 Aug;29(8):1186-1197. - PMID 33854215
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4
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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5
Genetic diversity in Kashubs : the regional increase in the frequency of several disease-causing variants
enthalten in:
Journal of applied genetics
| 2022
von
Jankowski, M.
|
Daca-Roszak, P.
|
Obracht-Prondzyński, C.
| +3
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6
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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7
Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression
enthalten in:
Pediatric nephrology
| 2022
von
Trautmann, A.
|
Seide, S.
|
Lipska-Ziętkiewicz, B.
| +25
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8
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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9
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
| 25 May 2022
von
Drovandi, S.
|
Lipska-Ziętkiewicz, B.
|
Ozaltin, F.
| +77
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10
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy
enthalten in:
Kidney international
| 26 April 2022
von
Drovandi, S.
|
Lipska-Ziętkiewicz, B.
|
Ozaltin, F.
| +41
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66
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E-Ressourcen
62
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4
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Zeitschriftentitel
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Journal of applied genetics
7
Kidney international
6
BMC nephrology
4
European journal of human genetics : EJHG
4
International urology and nephrology
2
Alzheimer's research & therapy
2
Human mutation
2
Journal of the American Society of Nephrology
2
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2
Pediatric diabetes
2
Scientific reports
1
American Journal of Medical Genetics Part C: Se...
1
American journal of kidney diseases
1
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1
American journal of medical genetics. Part A
1
Clinical dysmorphology
1
Clinical journal of the American Society of Nep...
1
Contemporary oncology (Poznan, Poland)
1
Developmental period medicine
1
Diagnostics (Basel, Switzerland)
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Thema
33
Journal Article
20
Research Support, Non-U.S. Gov't
8
Case Reports
6
Nephrotic syndrome
5
Collagen Type IV
4
COL4A5 protein, human
4
Dent disease
4
Low molecular weight proteinuria
4
Proteinuria
4
Published Erratum
4
SRNS
4
mitochondria
4
nephrotic syndrome
3
18q deletion syndrome
3
Autoantigens
3
Demography
3
Distal chromosome 6p duplication
3
Focal segmental glomerulosclerosis
3
Founder mutation
3
Glomerulopathy
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Erscheinungszeitraum
36
2020-
31
2010-2019
Erscheinungsjahr(e)
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Sprache
64
Englisch
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