E-LIB Suche - Ergebnisse für: Mandrile, Giorgia

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

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

The Usefulness of a Targeted Next Generation Sequencing Gen..:

Mellone, Simona ; Puricelli, Chiara ; Vurchio, Denise...
Frontiers in Genetics. 13 (2022) - p. , 2022

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

11

Long-Term Transplantation Outcomes in Patients With Primary..:

Metry, Elisabeth L. ; Garrelfs, Sander F. ; Peters-Sengers, Hessel...
Kidney International Reports. 7 (2022) 2 - p. 210-220 , 2022

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

12

First and Second Level Haemoglobinopathies Diagnosis: Best ..:

Mandrile, Giorgia ; Barella, Susanna ; Giambona, Antonino...
Journal of Clinical Medicine. 11 (2022) 18 - p. 5426 , 2022

Link: https://doi.org/10.3390/..

13

Improved Outcome of Infantile Oxalosis Over Time in Europe:..:

Deesker, Lisa J. ; Garrelfs, Sander F. ; Mandrile, Giorgia...
Kidney International Reports. 7 (2022) 7 - p. 1608-1618 , 2022

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

14

Combined liver kidney transplantation for primary hyperoxal..:

Tandoi, Francesco ; Cussa, Davide ; Peruzzi, Licia...
Pediatric Transplantation. 25 (2021) 4 - p. , 2021

Link: https://doi.org/10.1111/..

15

Biallelic PI4KA variants cause a novel neurodevelopmental s..:

Verdura, Edgard ; Rodríguez-Palmero, Agustí ; Vélez-Santamaria, Valentina...
Brain. 144 (2021) 9 - p. 2659-2669 , 2021

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