E-LIB Suche - Ergebnisse für: Percesepe, Antonio

1

Mosaic derivative chromosomes at chorionic villi (CV) sampl..:

Vitetta, Giulia ; Desiderio, Laura ; Baccolini, Ilaria...
Molecular Cytogenetics. 17 (2024) 1 - p. , 2024

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

2

Phenotypic Expansion of Autosomal Dominant LZTR1-Related Di..:

Uliana, Vera ; Ambrosini, Enrico ; Taiani, Antonietta...
Genes. 15 (2024) 7 - p. 916 , 2024

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

3

Genetic Basis of Breast and Ovarian Cancer: Approaches and ..:

Barili, Valeria ; Ambrosini, Enrico ; Bortesi, Beatrice...
Genes. 15 (2024) 2 - p. 219 , 2024

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

4

A case series of non-small cell lung cancer patients with E..:

Cognigni, Valeria ; Capelletto, Enrica ; Bordi, Paola...
Tumori Journal. , 2024

Link: https://doi.org/10.1177/..

5

Charcot–Marie–Tooth Disease with Myelin Protein Zero Mutati..:

Gemignani, Franco ; Percesepe, Antonio ; Gualandi, Francesca...
International Journal of Molecular Sciences. 25 (2024) 3 - p. 1654 , 2024

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

6

Pure Parkinsonism as Possible Phenotype Expansion of THAP1‐..:

Ambrosini, Enrico ; Cancilla, Rita ; Paul, Jefri Jeya...
Movement Disorders. 39 (2024) 6 - p. 1072-1074 , 2024

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

7

Case Report: short stature, kidney anomalies, and cerebral ..:

Petraroli, Maddalena ; Percesepe, Antonio ; Piane, Maria...
Frontiers in Endocrinology. 14 (2023) - p. , 2023

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

8

The "cortical invagination sign": a midtrimester sonographi..:

Ramirez Zegarra, Ruben ; Casati, Daniela ; Volpe, Nicola...
American Journal of Obstetrics & Gynecology MFM. 5 (2023) 12 - p. 101198 , 2023

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

9

#2684 DIAGNOSTIC YIELD OF A TARGETED GENE PANEL FOR MONOGEN..:

Giovanella, Silvia ; Poyatos Andújar, Antonio M ; Avila-Fernandez, Almudena...
Nephrology Dialysis Transplantation. 38 (2023) Supplement_1 - p. , 2023

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

10

Reassessment of the NF1 variants of unknown significance fo..:

Martorana, Davide ; Barili, Valeria ; Uliana, Vera...
European Journal of Medical Genetics. 66 (2023) 11 - p. 104847 , 2023

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

11

Success and Pitfalls of Genetic Testing in Undiagnosed Dise..:

Barili, Valeria ; Ambrosini, Enrico ; Uliana, Vera...
Genes. 14 (2023) 6 - p. 1241 , 2023

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

12

TBC1D32 variants disrupt retinal ciliogenesis and cause ret..:

Bocquet, Béatrice ; Borday, Caroline ; Erkilic, Nejla...
JCI Insight. 8 (2023) 21 - p. , 2023

Link: https://doi.org/10.1172/..

13

A patient with mosaic USP9X gene variant:

Barili, Valeria ; Dall'Asta, Andrea ; Uliana, Vera...
European Journal of Medical Genetics. 65 (2022) 12 - p. 104638 , 2022

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

14

Severe hypertrophic cardiomyopathy in a patient with a homo..:

Serra, Walter ; Vitetta, Giulia ; Uliana, Vera...
Heliyon. 8 (2022) 12 - p. e12373 , 2022

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

15

The effect of carriers' reproductive choices and pregnancy ..:

Riccardi, Federica ; Coppola, Antonio ; Rivolta, Gianna Franca...
Haemophilia. 28 (2022) 2 - p. 308-315 , 2022

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