Suchergebnisse - "Lipska-Ziętkiewicz, Beata S"

PubPharm (33)

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

2

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

3

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

4

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

5

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

6

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

7

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

8

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome

enthalten in: American journal of medical genetics. Part A | 2022

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

9

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy : Novel Variants of MAFB Gene and Literature Review

enthalten in: Journal of clinical medicine | 2022

von Drovandi, S. | Lugani, F. | Boyer, O. | +10

10

Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism

enthalten in: Journal of clinical research in pediatric endocrinology | 2022

von Krawczyk, M. | Styczewska, M. | Birkholz-Walerzak, D. | +6