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Mandrile, Giorgia
101
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Online (101)
Mediatypes
Articles (Online) (32)
OpenAccess-fulltext (69)
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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/..
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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/..
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3
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/..
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4
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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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10
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/..
?
11
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/..
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12
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/..
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13
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/..
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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/..
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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/..
1-15