Suchergebnisse - "Lipska-Ziętkiewicz, Beata S"

PubPharm (67)

11

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

12

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

13

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

14

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

15

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

16

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

17

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

18

Genetics in chronic kidney disease : conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

enthalten in: Kidney international | 2022

von KDIGO Conference Participants | Köttgen, A. | Cornec-Le Gall, E. | +60

19

The 2019 and 2021 International Workshops on Alport Syndrome

enthalten in: European journal of human genetics : EJHG | 2022

von Daga, S. | Ding, J. | Deltas, C. | +23

ErratumIn: Eur J Hum Genet. 2023 Jan 24;:. - PMID 36690832

20

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