Suchergebnisse - "Graziani, Ludovico"

PubPharm (11)

1

Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations

enthalten in: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians | 2024

von Graziani, L. | Nuovo, S. | Pisaneschi, E. | +8

2

Descending necrotizing mediastinitis caused by retro-pharyngeal Eggerthia catenaformis infection

enthalten in: Germs | 2023

von Graziani, A. | Tamburini, M. | Congestrì, F. | +4

3

Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin : A Case Report

enthalten in: Genes | 2023

von Graziani, L. | Zampatti, S. | Carriero, M. | +5

4

A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome

enthalten in: American journal of medical genetics. Part A | 2023

von Graziani, L. | Cinnirella, G. | Ferradini, V. | +5

5

Case report : A new de novo 6q21q22.1 interstitial deletion case in a girl with cerebellar vermis hypoplasia and developmental delay and literature review

enthalten in: Frontiers in genetics | 2023

von Minotti, C. | Graziani, L. | Sallicandro, E. | +7

6

A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser‐Winter syndrome

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2023

von Graziani, L. | Cinnirella, G. | Ferradini, V. | +5

7

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

enthalten in: American journal of medical genetics. Part A | 2022

von Hardcastle, A. | Berry, A. | Campbell, I. | +43

8

Lumbar spinal canal stenosis : An early sign of amyloid transthyretin related amyloidosis

enthalten in: Kardiologia polska | 2022

von Graziani, A. | Cenni, P. | Lisi, M. | +2

9

Identifying phenotypic expansions for congenital diaphragmatic hernia plus ( CDH+) using DECIPHER data

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2022

von Hardcastle, A. | Berry, A. | Campbell, I. | +43

10

Pulmonary artery thrombosis in home patient with a mild COVID-19 disease

enthalten in: Pneumonologia | 2020

von Graziani, A. | Domenicali, M. | Zanframundo, G. | +4