E-LIB Suche - Ergebnisse für: Stokman, Marijn F.

1

Bardet-Biedl syndrome improved diagnosis criteria and manag..:

Dollfus, Hélène ; Lilien, Marc R. ; Maffei, Pietro...
European Journal of Human Genetics. , 2024

2

Cellular senescence in kidney biopsies is associated with t..:

Knoppert, Sebastiaan N ; Keijzer‐Veen, Mandy G ; Valentijn, Floris A...
The Journal of Pathology. 261 (2023) 4 - p. 455-464 , 2023

Link: https://doi.org/10.1002/..

3

Renal Ciliopathies: Sorting Out Therapeutic Approaches for ..:

Stokman, Marijn F. ; Saunier, Sophie ; Benmerah, Alexandre
Frontiers in Cell and Developmental Biology. 9 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

4

P0050PRE-IMPLANTATION GENETIC TESTING FOR MONOGENIC KIDNEY ..:

Van Eerde, Albertien M ; De Die-Smulders, Christine ; Knoers, Nine...
Nephrology Dialysis Transplantation. 35 (2020) Supplement_3 - p. , 2020

Link: https://doi.org/10.1093/..

5

Changes in the urinary extracellular vesicle proteome are a..:

Stokman, Marijn F. ; Bijnsdorp, Irene V. ; Schelfhorst, Tim...
Journal of Proteomics. 192 (2019) - p. 27-36 , 2019

Link: https://doi.org/10.1016/..

6

Loss-of-function mutations inKIF14cause severe microcephaly..:

Reilly, Madeline Louise ; Stokman, Marijn F ; Magry, Virginie...
Human Molecular Genetics. 28 (2018) 5 - p. 778-795 , 2018

Link: https://doi.org/10.1093/..

7

Clinical and genetic analyses of a Dutch cohort of 40 patie..:

Stokman, Marijn F. ; van der Zwaag, Bert ; van de Kar, Nicole C. A. J....
Pediatric Nephrology. 33 (2018) 10 - p. 1701-1712 , 2018

Link: https://doi.org/10.1007/..

8

Compound heterozygous NEK1 variants in two siblings with or..:

Monroe, Glen R ; Kappen, Isabelle FPM ; Stokman, Marijn F...
European Journal of Human Genetics. 24 (2016) 12 - p. 1752-1760 , 2016

Link: https://doi.org/10.1038/..

9

De novo 14q24.2q24.3 microdeletion including IFT43 is assoc..:

Stokman, Marijn F. ; Oud, Machteld M. ; van Binsbergen, Ellen...
American Journal of Medical Genetics Part A. 170 (2016) 6 - p. 1566-1569 , 2016

Link: https://doi.org/10.1002/..

10

Non-invasive sources of cells with primary cilia from pedia..:

Ajzenberg, Henry ; Slaats, Gisela G. ; Stokman, Marijn F....
Cilia. 4 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

11

Nephronophthisis-Associated CEP164 Regulates Cell Cycle Pro..:

Slaats, Gisela G. ; Ghosh, Amiya K. ; Falke, Lucas L....
PLoS Genetics. 10 (2014) 10 - p. e1004594 , 2014

Link: https://doi.org/10.1371/..

12

Renal Ciliopathies: Sorting Out Therapeutic Approaches for ..:

Stokman, Marijn F ; Saunier, Sophie ; Benmerah, Alexandre
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8155538/. , 2021

Link: http://www.ncbi.nlm.nih...

13

Preimplantation Genetic Testing for Monogenic Kidney Diseas:

Snoek, Rozemarijn ; Stokman, Marijn F ; Lichtenbelt, Klaske D...
https://research.rug.nl/en/publications/70e40423-c237-4e65-b95f-7c3dec7915b0. , 2020

Link: https://hdl.handle.net/1..

14

Preimplantation Genetic Testing for Monogenic Kidney Diseas:

Snoek, Rozemarijn ; Stokman, Marijn F ; Lichtenbelt, Klaske D...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480540/. , 2020

Link: http://www.ncbi.nlm.nih...

15

Preimplantation Genetic Testing for Monogenic Kidney Diseas:

Snoek, Rozemarijn ; Stokman, Marijn F ; Lichtenbelt, Klaske D...
Snoek , R , Stokman , M F , Lichtenbelt , K D , van Tilborg , T C , Simcox , C E , Paulussen , A D C , Dreesen , J C M F , van Reekum , F , Lely , A T , Knoers , N V A M , de Die-Smulders , C E M & van Eerde , A M 2020 , ' Preimplantation Genetic Testing for Monogenic Kidney Disease ' , Clinical journal of the American Society of Nephrology , vol. 15 , no. 9 , pp. 1279-1286 . https://doi.org/10.2215/CJN.03550320. , 2020

Link: https://cris.maastrichtu..