E-LIB Suche - Ergebnisse für: Artuso, Rosangela

1

Prospective genetic germline evaluation in a consecutive gr..:

Attardi, Enrico ; Tiberi, Lucia ; Mattiuz, Giorgio...
HemaSphere. 8 (2024) 7 - p. , 2024

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

2

Multimodal phenotyping of foveal hypoplasia in albinism and..:

Bacci, Giacomo M. ; Marziali, Elisa ; Bargiacchi, Sara...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

3

PIEZO1 mutations impact on early clinical manifestations of..:

Attardi, Enrico ; Andolfo, Immacolata ; Russo, Roberta...
American Journal of Hematology. 98 (2023) 4 - p. , 2023

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

4

Pseudo-rheumatic manifestations of limping: Camptodactyly–a..:

Maniscalco, Valerio ; Pizzetti, Camilla ; Marrani, Edoardo...
Frontiers in Pediatrics. 10 (2022) - p. , 2022

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

5

Clinical and Genetic Characterization of Patients with Bart..:

Palazzo, Viviana ; Raglianti, Valentina ; Landini, Samuela...
International Journal of Molecular Sciences. 23 (2022) 10 - p. 5641 , 2022

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

6

The Immunomodulatory Effect and Clinical Efficacy of Daratu..:

Zaninoni, Anna ; Giannotta, Juri A. ; Gallì, Anna...
Frontiers in Immunology. 12 (2021) - p. , 2021

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

7

Aberrant sialylation in a patient with a HNF1α variant and ..:

Sturiale, Luisa ; Nassogne, Marie-Cécile ; Palmigiano, Angelo...
iScience. 24 (2021) 4 - p. 102323 , 2021

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

8

Chiari 1 malformation and exome sequencing in 51 trios: the..:

Provenzano, Aldesia ; La Barbera, Andrea ; Scagnet, Mirko...
Human Genetics. 140 (2020) 4 - p. 625-647 , 2020

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

9

Clinical and molecular characterization of a novel INS muta..:

Piccini, Barbara ; Artuso, Rosangela ; Lenzi, Lorenzo...
European Journal of Medical Genetics. 59 (2016) 11 - p. 590-595 , 2016

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

10

Genome prescription in kidney diseases:

Giglio, Sabrina ; Artuso, Rosangela ; Mazzinghi, Benedetta.
Clinical Biochemistry. 46 (2013) 12 - p. 1151-1152 , 2013

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

11

Erratum: Investigation of modifier genes within copy number..:

Artuso, Rosangela ; Papa, Filomena T ; Grillo, Elisa...
Journal of Human Genetics. 57 (2012) 5 - p. 342-344 , 2012

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

12

Investigation of modifier genes within copy number variatio..:

Artuso, Rosangela ; Papa, Filomena T ; Grillo, Elisa...
Journal of Human Genetics. 56 (2011) 7 - p. 508-515 , 2011

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

13

Is Complement Alternative Pathway Disregulation Involved in..:

Bucalossi, Alessandro ; Toraldo, Francesca ; Tozzi, Monica...
Biology of Blood and Marrow Transplantation. 16 (2010) 12 - p. 1749-1750 , 2010

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

14

Autosomal dominant Alport syndrome: molecular analysis of t..:

Marcocci, Elena ; Uliana, Vera ; Bruttini, Mirella...
Nephrology Dialysis Transplantation. 24 (2009) 5 - p. 1464-1471 , 2009

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

15

Mutations in FN1 Cause Glomerulopathy with Fibronectin Depo..:

Castelletti, Federica ; Donadelli, Roberta ; Banterla, Federica...
Proceedings of the National Academy of Sciences of the United States of America. 105 (2008) 7 - p. 2538-2543 , 2008

Link: https://www.jstor.org/st..