Suchergebnisse - "Lipska-Ziętkiewicz, Beata S"

PubPharm (4)

1

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

2

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

3

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

4

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

1
[1]