受强制性开放获取政策约束的文章 - Laura Pezzoli了解详情
无法在其他位置公开访问的文章：1 篇
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene
F Ruscitti, M Cerminara, M Iascone, L Pezzoli, G Rosti, F Romano, ...
Birth Defects Research 114 (12), 674-681, 2022
强制性开放获取政策： Government of Italy
可在其他位置公开访问的文章：10 篇
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome
M Iascone, R Ciccone, L Galletti, D Marchetti, F Seddio, AR Lincesso, ...
Clinical genetics 81 (6), 542-554, 2012
强制性开放获取政策： Fondazione Telethon, Italy
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis
A Lopez-Sainz, F Dominguez, LR Lopes, JP Ochoa, R Barriales-Villa, ...
Journal of the American College of Cardiology 76 (2), 186-197, 2020
强制性开放获取政策： Banking Foundation "la Caixa", British Heart Foundation, UK Medical Research …
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
ED Mina, R Ciccone, F Brustia, B Bayindir, I Limongelli, A Vetro, ...
European Journal of Human Genetics 23 (3), 354-362, 2015
强制性开放获取政策： US National Institutes of Health, Fondazione Telethon, Italy
Loss‐of‐Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association
A Vetro, M Iascone, I Limongelli, N Ameziane, S Gana, ED Mina, ...
Human mutation 36 (5), 562-568, 2015
强制性开放获取政策： Fondazione Telethon, Italy, Fondazione Cariplo, Dutch Cancer Society …
Intraoperative diagnosis of Anderson-Fabry disease in patients with obstructive hypertrophic cardiomyopathy undergoing surgical myectomy
F Cecchi, M Iascone, N Maurizi, L Pezzoli, I Binaco, E Biagini, ML Fibbi, ...
JAMA cardiology 2 (10), 1147-1151, 2017
强制性开放获取政策： Government of Italy
Atypical, composite, or blended phenotypes: how different molecular mechanisms could associate in double-diagnosed patients
E Rosina, L Pezzani, L Pezzoli, D Marchetti, M Bellini, A Pilotta, ...
Genes 13 (7), 1275, 2022
强制性开放获取政策： Government of Italy
DSP-Related Cardiomyopathy as a Distinct Clinical Entity? Emerging Evidence from an Italian Cohort
F Di Lorenzo, E Marchionni, V Ferradini, A Latini, L Pezzoli, A Martino, ...
International Journal of Molecular Sciences 24 (3), 2490, 2023
强制性开放获取政策： Government of Italy
Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome
ME Sana, A Spitaleri, D Spiliotopoulos, L Pezzoli, L Preda, G Musco, ...
American Journal of Medical Genetics Part A 164 (8), 2069-2073, 2014
强制性开放获取政策： Fondazione Telethon, Italy, Fondazione Cariplo
Severe Epilepsy and Movement Disorder May Be Early Symptoms of TMEM106B-Related Hypomyelinating Leukodystrophy
R Solazzi, M Moscatelli, DR Sebastiano, L Canafoglia, L Pezzoli, ...
Neurology: Genetics 8 (5), e200022, 2022
强制性开放获取政策： Government of Italy
Open Library of Bioscience
J Mata, A Wenz, T Rettig, M Reifenscheid, K Möhring, U Krieger, S Friedel, ...
Health 10 (287), 114333, 2021
强制性开放获取政策： US National Institutes of Health, Government of Italy
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