Suchergebnisse - "Lipska-Ziętkiewicz, Beata S"

PubPharm (67)

21

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

22

Later Response to Corticosteroids in Adults With Primary Focal Segmental Glomerular Sclerosis Is Associated With Favorable Outcomes

enthalten in: Kidney international reports | 2022

von Rood, I. | Bavinck, A. | Lipska-Ziętkiewicz, B. | +4

23

Genetic testing in the diagnosis of chronic kidney disease : recommendations for clinical practice

enthalten in: Nephrology, dialysis, transplantation | 2022

von Knoers, N. | Antignac, C. | Bergmann, C. | +8

24

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

25

Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2022

von Marbach, F. | Lipska‐Ziętkiewicz, B. | Knurowska, A. | +16

26

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

27

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 | 2021

von Savige, J. | Storey, H. | Watson, E. | +40

ErratumIn: Eur J Hum Genet. 2023 Jan 31;:. - PMID 36721056

28

Publisher Correction : Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group

enthalten in: Nature reviews. Nephrology | 2021

von Boyer, O. | Schaefer, F. | Haffner, D. | +9

ErratumFor: Nat Rev Nephrol. 2021 Apr;17(4):277-289. - PMID 33514942

29

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

enthalten in: Kidney international | 2021

von Żurowska, A. | Bielska, O. | Daca-Roszak, P. | +25

30

Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia

enthalten in: Genes, chromosomes & cancer | 2021

von Pastorczak, A. | Hogendorf, A. | Urbanska, Z. | +11