Suchergebnisse - "Balestra, Dario"

PubPharm (40)

1

Pleiotropic effects of different exonic nucleotide changes at the same position contribute to hemophilia B phenotypic variation

enthalten in: Journal of thrombosis and haemostasis : JTH | 2024

von Zhang, H. | Xin, M. | Lin, L. | +3

2

3D Printed Materials for Permanent Restorations in Indirect Restorative and Prosthetic Dentistry : A Critical Review of the Literature

enthalten in: Materials (Basel, Switzerland) | 2024

von Balestra, D. | Lowther, M. | Goracci, C. | +5

3

Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism : Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction

enthalten in: International journal of molecular sciences | 2023

von Lunghi, B. | Ziliotto, N. | Balestra, D. | +7

4

Translucency of CAD/CAM and 3D Printable Composite Materials for Permanent Dental Restorations

enthalten in: Polymers | 2023

von Vichi, A. | Balestra, D. | Scotti, N. | +2

5

Clinically Relevant Properties of 3D Printable Materials for Intraoral Use in Orthodontics : A Critical Review of the Literature

enthalten in: Materials (Basel, Switzerland) | 2023

von Goracci, C. | Juloski, J. | D'Amico, C. | +4

6

Counteracting the Common Shwachman-Diamond Syndrome-Causing SBDS c.258+2T>C Mutation by RNA Therapeutics and Base/Prime Editing

enthalten in: International journal of molecular sciences | 2023

von Peretto, L. | Tonetto, E. | Maestri, I. | +5

7

The Asialoglycoprotein Receptor Minor Subunit Gene Contributes to Pharmacokinetics of Factor VIII Concentrates in Hemophilia A

enthalten in: Thrombosis and haemostasis | 2022

von Lunghi, B. | Morfini, M. | Martinelli, N. | +8

8

Not Just Loss-of-Function Variations : Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution

enthalten in: Neurology. Genetics | 2022

von Frasca, A. | Pavlidou, E. | Bizzotto, M. | +7

9

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies

enthalten in: Molecular medicine (Cambridge, Mass.) | 2021

von Sacchetto, C. | Peretto, L. | Baralle, F. | +7

10

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and $ spf^{ash} $ mice, and govern susceptibility to RNA-based therapies

enthalten in: Molecular medicine | 2021

von Sacchetto, C. | Peretto, L. | Baralle, F. | +7