Suchergebnisse - "Lipska-Ziętkiewicz, Beata S"

PubPharm (67)

31

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

sonderdruck aus: Nephrology dialysis transplantation | 2021

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

32

Non-syndromic inherited retinal diseases in Poland : Genes, mutations, and phenotypes

enthalten in: Molecular vision | 2021

von Tracewska, A. | Kocyła-Karczmarewicz, B. | Rafalska, A. | +10

33

Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency

enthalten in: Frontiers in immunology | 2021

von Hogendorf, A. | Zieliński, M. | Constantinou, M. | +19

34

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

enthalten in: Genes, Chromosomes and Cancer | 2021

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

35

Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

enthalten in: Diagnostics (Basel, Switzerland) | 2020

von Gawrychowska, A. | Iżycka-Świeszewska, E. | Lipska-Ziętkiewicz, B. | +4

36

Genetic aspects of congenital nephrotic syndrome : a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group

enthalten in: European journal of human genetics | 28 May 2020

von Lipska-Ziętkiewicz, B. | Ozaltin, F. | Hölttä, T. | +8

37

NUP Nephropathy : When Defective Pores Cause Leaky Glomeruli

enthalten in: American journal of kidney diseases : the official journal of the National Kidney Foundation | 2019

von Lipska-Ziętkiewicz, B. | Schaefer, F.

CommentOn: J Clin Invest. 2018 Oct 1;128(10):4313-4328. - PMID 30179222

38

NUP Nephropathy : when defective pores cause leaky glomeruli

enthalten in: American journal of kidney diseases | June 2019

von Lipska-Ziętkiewicz, B. | Schaefer, F.

39

Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome : The PodoNet Registry

enthalten in: Frontiers in pediatrics | 2018

von Trautmann, A. | Lipska-Ziętkiewicz, B. | Schaefer, F.

40

Exploring the clinical and genetic spectrum of steroid resistant nephrotic syndrome : the PodoNet Registry

enthalten in: Frontiers in Pediatrics | 17 July 2018

von Trautmann, A. | Lipska-Ziętkiewicz, B. | Schaefer, F. | +1