Suchergebnisse - "Pasini, Barbara"

PubPharm (187)

1

Multimodal Imaging of a novel MFSD8/CLN7 mutation associated with non-syndromic symmetric adult-onset macular dystrophy

enthalten in: Retinal cases & brief reports | 2024

von Gelormini, F. | Vallino, V. | Breazzano, M. | +3

2

Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes

enthalten in: European journal of human genetics : EJHG | 2023

von Giovenino, C. | Trajkova, S. | Pavinato, L. | +26

3

Identification of a robust DNA methylation signature for Fanconi anemia

enthalten in: American journal of human genetics | 2023

von Pagliara, D. | Ciolfi, A. | Pedace, L. | +29

4

Temporal correlation between the first melanoma and the first noncutaneous tumor in CKDN2A genotyped patients

enthalten in: Melanoma research | 2023

von Gironi, L. | Esposto, E. | Zottarelli, F. | +12

5

ENIGMA CHEK2gether Project : A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

enthalten in: Clinical cancer research : an official journal of the American Association for Cancer Research | 2023

von Stolarova, L. | Kleiblova, P. | Zemankova, P. | +98

6

Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions : A Pilot Study in a Third-Level Center

enthalten in: Cancers | 2023

von Roccuzzo, G. | Giordano, S. | Granato, T. | +6

7

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility

enthalten in: Human genetics | 2023

von Leone, M. | Morlino, S. | Nardella, G. | +33

8

Skewed X-chromosome Inactivation in Unsolved Neurodevelopmental Disease Cases Can Guide Re-evaluation for X-linked Genes

enthalten in: ResearchSquare.com | 2023

von Brusco, A. | Giovenino, C. | Trajkova, S. | +25

9

A Novel PSEN1 Variant Leading to Posterior Cortical Atrophy : A Case Report

enthalten in: Journal of Alzheimer's disease reports | 2023

von Roveta, F. | Marcinnò, A. | Grassini, A. | +11

10

Phenotype reversion as "natural gene therapy" in Fanconi anemia by a gene conversion event

enthalten in: Frontiers in genetics | 2023

von Persico, I. | Fiscarelli, I. | Pelle, A. | +4

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