E-LIB Suche - Ergebnisse für: Pepe, Guglielmina

1

HTAD patient pathway: Strategy for diagnostic work-up of pa..:

Caruana, Maryanne ; Baars, Marieke J. ; Bashiardes, Evy...
European Journal of Medical Genetics. 66 (2023) 1 - p. 104673 , 2023

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

2

Poster No. 132 HTAD PATIENT PATHWAY: Strategy for diagnosti..:

de Backer, Julie ; Caruana, Maryanne ; Baars, Marieke...
Cardiovascular Research. 118 (2022) Supplement_2 - p. , 2022

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

3

Tracking an Elusive Killer: State of the Art of Molecular-G..:

De Cario, Rosina ; Giannini, Marco ; Cassioli, Giulia...
Diagnostics. 12 (2022) 8 - p. 1785 , 2022

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

4

Differential Diagnosis between Marfan Syndrome and Loeys–Di..:

Nistri, Stefano ; De Cario, Rosina ; Sticchi, Elena...
Genes. 12 (2021) 10 - p. 1462 , 2021

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

5

Two-Dimensional Aortic Size Normalcy: A Novelty Detection A..:

Frasconi, Paolo ; Baracchi, Daniele ; Giusti, Betti...
Diagnostics. 11 (2021) 2 - p. 220 , 2021

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

6

When should a rare inherited connective tissue disorder be ..:

Pepe, Guglielmina ; Giusti, Betti ; Colonna, Stefania...
Internal and Emergency Medicine. 16 (2020) 3 - p. 609-615 , 2020

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

7

Sanger Validation of High-Throughput Sequencing in Genetic ..:

De Cario, Rosina ; Kura, Ada ; Suraci, Samuele...
Frontiers in Genetics. 11 (2020) - p. , 2020

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

8

Clinical significance of family history and bicuspid aortic..:

Monda, Emanuele ; Fusco, Adelaide ; Melis, Daniela...
Cardiology in the Young. 30 (2020) 5 - p. 663-667 , 2020

Link: https://doi.org/10.1017/..

9

European reference network for rare vascular diseases (VASC..:

van de Laar, Ingrid M. B. H. ; Arbustini, Eloisa ; Loeys, Bart...
Orphanet Journal of Rare Diseases. 14 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

10

Role of lipoprotein (a) and LPA KIV2 repeat polymorphism in..:

Sticchi, Elena ; Giusti, Betti ; Cordisco, Antonella...
Internal and Emergency Medicine. 14 (2018) 1 - p. 45-50 , 2018

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

11

Bicuspid Aortic Valve: Role of Multiple Gene Variants in In..:

Sticchi, Elena ; De Cario, Rosina ; Magi, Alberto...
BioMed Research International. 2018 (2018) - p. 1-9 , 2018

Link: https://doi.org/10.1155/..

12

Genetic Bases of Bicuspid Aortic Valve: The Contribution of..:

Giusti, Betti ; Sticchi, Elena ; De Cario, Rosina...
Frontiers in Physiology. 8 (2017) - p. , 2017

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

13

Marfan syndrome: current perspectives:

Pepe, Guglielmina ; Giusti, Betti ; Sticchi, Elena...
The Application of Clinical Genetics. , 2016

Link: https://doi.org/10.2147/..

14

A group of patients with Marfan's syndrome, who have finger..:

Melchiorre, Daniela ; Pratelli, Elisa ; Torricelli, Elena...
Internal and Emergency Medicine. 11 (2016) 5 - p. 703-711 , 2016

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

15

Fibrillins in Tendon:

Giusti, Betti ; Pepe, Guglielmina
Frontiers in Aging Neuroscience. 8 (2016) - p. , 2016

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