E-LIB Suche - Ergebnisse für: Graziani, Ludovico

1

Prenatal identification of a pathogenic maternalFGFR1varian..:

Graziani, Ludovico ; Nuovo, Sara ; Pisaneschi, Elisa...
The Journal of Maternal-Fetal & Neonatal Medicine. 37 (2024) 1 - p. , 2024

Link: https://doi.org/10.1080/..

2

Genetic Variability of SOX10-Related Disorders within an It..:

Graziani, Ludovico ; Carriero, Miriam Lucia ; Pozzi, Flavio...
Molecular Syndromology. 15 (2024) 4 - p. 339-346 , 2024

Link: https://doi.org/10.1159/..

3

A Novel COL4A5 Pathogenic Variant Joins the Dots in a Famil..:

Graziani, Ludovico ; Minotti, Chiara ; Carriero, Miriam Lucia...
Genes. 15 (2024) 5 - p. 597 , 2024

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

4

Case report: A new de novo 6q21q22.1 interstitial deletion ..:

Minotti, Chiara ; Graziani, Ludovico ; Sallicandro, Ester...
Frontiers in Genetics. 14 (2024) - p. , 2024

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

5

A likely pathogenic ACTG1 variant in a child showing partia..:

Graziani, Ludovico ; Cinnirella, Giacomo ; Ferradini, Valentina...
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1565-1569 , 2023

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

6

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Gene..:

Graziani, Ludovico ; Zampatti, Stefania ; Carriero, Miriam Lucia...
Genes. 14 (2023) 8 - p. 1589 , 2023

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

7

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska M. ; Campbell, Ian M....
American Journal of Medical Genetics Part A. 188 (2022) 10 - p. 2958-2968 , 2022

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

8

Resolution of pulmonary artery thrombosis in patients with ..:

Zanframundo, Grazia ; Graziani, Alessandro ; Caroli, Barbara...
Journal of Community Hospital Internal Medicine Perspectives. 11 (2021) 4 - p. 470-472 , 2021

Link: https://doi.org/10.1080/..

9

Pulmonary artery thrombosis in home patient with a mild COV..:

Graziani, Alessandro ; Domenicali, Marco ; Zanframundo, Grazia...
Pneumologia. 69 (2020) 2 - p. 103-106 , 2020

Link: https://doi.org/10.2478/..

10

Descending necrotizing mediastinitis caused by retro-pharyn..:

Graziani, Alessandro ; Tamburini, Maria Vittoria ; Congestrì, Francesco...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10748840/. , 2023

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

11

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska M ; Campbell, Ian M...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474674/. , 2022

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

12

Lumbar spinal canal stenosis: An early sign of amyloid tran..:

Graziani, Alessandro ; Cenni, Patrizia ; Lisi, Matteo..
https://journals.viamedica.pl/kardiologia_polska/article/view/KP.a2021.0179. , 2022

Link: https://journals.viamedi..

13

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska ; Campbell, Ian...
qt0643544f. , 2022

Link: https://escholarship.org..

14

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Gene..:

Ludovico Graziani ; Stefania Zampatti ; Miriam Lucia Carriero...
Human Genomics and Genetic Diseases. , 2023

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

15

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Gene..:

Ludovico Graziani ; Stefania Zampatti ; Miriam Lucia Carriero...
https://www.mdpi.com/2073-4425/14/8/1589. , 2023

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