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1

DNA methylation analysis in patients with neurodevelopmenta..:

Trajkova, Slavica ; Kerkhof, Jennifer ; Rossi Sebastiano, Matteo...
Human Genetics and Genomics Advances. 5 (2024) 3 - p. 100309 , 2024

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

2

Identification of the DNA methylation signature of Mowat-Wi..:

Caraffi, Stefano Giuseppe ; van der Laan, Liselot ; Rooney, Kathleen...
European Journal of Human Genetics. 32 (2024) 6 - p. 619-629 , 2024

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

3

Skewed X-chromosome inactivation in unsolved neurodevelopme..:

Giovenino, Chiara ; Trajkova, Slavica ; Pavinato, Lisa...
European Journal of Human Genetics. 31 (2023) 11 - p. 1228-1236 , 2023

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

4

A clinical screening algorithm for primary hyperoxaluria ty..:

Ferraro, Pietro Manuel ; D'Ambrosio, Viola ; Gambaro, Giovanni...
Nephrology Dialysis Transplantation. 39 (2023) 2 - p. 367-370 , 2023

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

5

Commensal fungi and oxalate degradation: is there a link?:

Costantini, Claudio ; Dindo, Mirco ; Pariano, Marilena...
Microbiota and Host. 2 (2023) 1 - p. , 2023

Link: https://doi.org/10.1530/..

6

Clinical practice recommendations for primary hyperoxaluria..:

Groothoff, Jaap W. ; Metry, Ella ; Deesker, Lisa...
Nature Reviews Nephrology. 19 (2023) 3 - p. 194-211 , 2023

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

7

Determinants of Kidney Failure in Primary Hyperoxaluria Typ..:

Metry, Elisabeth L. ; Garrelfs, Sander F. ; Deesker, Lisa J....
Kidney International Reports. 8 (2023) 10 - p. 2029-2042 , 2023

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

8

Determinants of Kidney Failure in Primary Hyperoxaluria Typ..:

Metry, Elisabeth L ; Garrelfs, Sander F ; Deesker, Lisa J...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ekir.2023.07.025. , 2023

Link: https://hal.science/hal-..

9

Determinants of Kidney Failure in Primary Hyperoxaluria Typ..:

Metry, Elisabeth L ; Garrelfs, Sander F ; Deesker, Lisa J...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10577369/. , 2023

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

10

Determinants of Kidney Failure in Primary Hyperoxaluria Typ..:

Metry, Elisabeth L ; Garrelfs, Sander F ; Deesker, Lisa J...
https://research.rug.nl/en/publications/6954ce6b-5145-41fe-99e4-165d26ad95cf. , 2023

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

11

Determinants of Kidney Failure in Primary Hyperoxaluria Typ..:

METRY, Elisabeth L ; GARRELFS, Sander F ; DEESKER, Lisa J...
2468-0249. , 2023

Link: https://oskar-bordeaux.f..

12

Skewed X-chromosome inactivation in unsolved neurodevelopme..:

Giovenino, Chiara ; Trajkova, Slavica ; Pavinato, Lisa...
info:eu-repo/semantics/altIdentifier/pmid/36879111. , 2023

Link: https://hdl.handle.net/2..

13

Deleterious, protein-altering variants in the transcription..:

Hiatt, Susan M ; Trajkova, Slavica ; Sebastiano, Matteo Rossi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9943726/. , 2023

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

14

Genetic assessment in primary hyperoxaluria: why it matters:

Mandrile, Giorgia ; Beck, Bodo ; Acquaviva, Cecile...
Pediatric Nephrology. 38 (2022) 3 - p. 625-634 , 2022

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

15

Primary hyperoxaluria in Italy: the past 30 years and the n..:

Mandrile, Giorgia ; Pelle, Alessandra ; Sciannameo, Veronica...
Journal of Nephrology. 35 (2022) 3 - p. 841-850 , 2022

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

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