E-LIB Suche - Ergebnisse für: Piane, Maria

1

Identification of a False-positive Multiplex Ligationdepend..:

Concolino, Paola ; De Paolis, Elisa ; Rinelli, Martina...
Annals of Laboratory Medicine. , 2024

Link: https://doi.org/10.3343/..

2

Case report: A novel mutation of glial fibrillary acidic pr..:

Romano, Carmela ; Morena, Emanuele ; Petrucci, Simona...
Frontiers in Neurology. 15 (2024) - p. , 2024

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

3

Seminological, Hormonal and Ultrasonographic Features of Ma..:

Mazzilli, Rossella ; Petrucci, Simona ; Zamponi, Virginia...
Journal of Clinical Medicine. 13 (2024) 15 - p. 4399 , 2024

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

4

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/..

5

Clinical Factors Predicting Multiple Endocrine Neoplasia Ty..:

Faggiano, Antongiulio ; Fazzalari, Beatrice ; Mikovic, Nevena...
Genes. 14 (2023) 9 - p. 1782 , 2023

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

6

Long QTc in hypertrophic cardiomyopathy: A consequence of s..:

Cava, Francesco ; Micolonghi, Caterina ; Musumeci, Maria Beatrice...
Frontiers in Cardiovascular Medicine. 10 (2023) - p. , 2023

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

7

A Novel Nonsense Pathogenic TTN Variant Identified in a Pat..:

Micolonghi, Caterina ; Fabiani, Marco ; Pagannone, Erika...
Current Issues in Molecular Biology. 45 (2023) 3 - p. 2422-2430 , 2023

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

8

PrenatalCFAP53-related laterality defect: case report and r..:

Mastromoro, Gioia ; Guadagnolo, Daniele ; Novelli, Antonio...
The Journal of Maternal-Fetal & Neonatal Medicine. 36 (2023) 1 - p. , 2023

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

9

Whole-Exome and Transcriptome Sequencing Expands the Genoty..:

Marzano, Flaviana ; Chiara, Matteo ; Consiglio, Arianna...
International Journal of Molecular Sciences. 24 (2023) 15 - p. 12291 , 2023

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

10

The role of genetic testing in suspected fulminant myocardi..:

Mistrulli, Raffaella ; Micolonghi, Caterina ; Follesa, Federico...
Molecular Genetics and Metabolism Reports. 37 (2023) - p. 101000 , 2023

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

11

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in..:

Guadagnolo, Daniele ; Mastromoro, Gioia ; Marchionni, Enrica...
Biomedicines. 11 (2023) 7 - p. 2062 , 2023

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

12

Genomic Breakpoints' Characterization of a Large CHEK2 Dupl..:

Germani, Aldo ; Guadagnolo, Daniele ; Salvati, Valentina...
Diagnostics. 12 (2022) 7 - p. 1520 , 2022

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

13

Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM..:

Montori, Andrea ; Germani, Aldo ; Ferri, Mario...
Biomedicines. 10 (2022) 12 - p. 3247 , 2022

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

14

A New SMAD4 Splice Site Variant in a Three-Generation Itali..:

Micolonghi, Caterina ; Piane, Maria ; Germani, Aldo...
Diagnostics. 12 (2022) 11 - p. 2684 , 2022

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

15

Mild Neurological Phenotype Associated with Hypomorphic Var..:

Caputi, Caterina ; Federici, Giulia ; Soddu, Silvia...
Movement Disorders Clinical Practice. 10 (2022) 1 - p. 124-129 , 2022

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