受强制性开放获取政策约束的文章 - Maria Clara Bonaglia了解详情
无法在其他位置公开访问的文章：2 篇
Clinical characterization, genetics, and long-term follow-up of a large cohort of patients with agenesis of the corpus callosum
R Romaniello, S Marelli, R Giorda, MF Bedeschi, MC Bonaglia, F Arrigoni, ...
Journal of child neurology 32 (1), 60-71, 2017
强制性开放获取政策： Government of Italy
Get your molar tooth right: Joubert syndrome misdiagnosis unmasked by whole-exome sequencing
F D’Abrusco, F Arrigoni, V Serpieri, R Romaniello, C Caputi, F Manti, ...
The Cerebellum, 1-7, 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：24 篇
Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients
M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ...
Journal of medical genetics 44 (12), 750-762, 2007
强制性开放获取政策： Swiss National Science Foundation
Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy
S Corti, M Nizzardo, C Simone, M Falcone, M Nardini, D Ronchi, ...
Science translational medicine 4 (165), 165ra162-165ra162, 2012
强制性开放获取政策： Fondazione Telethon, Italy
Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome
MC Bonaglia, R Giorda, S Beri, C De Agostini, F Novara, M Fichera, ...
PLoS genetics 7 (7), e1002173, 2011
强制性开放获取政策： Fondazione Telethon, Italy
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
N Brunetti-Pierri, AR Paciorkowski, R Ciccone, ED Mina, MC Bonaglia, ...
European Journal of Human Genetics 19 (1), 102-107, 2011
强制性开放获取政策： Fondazione Telethon, Italy
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability
AT Pagnamenta, H Khan, S Walker, D Gerrelli, K Wing, MC Bonaglia, ...
Journal of medical genetics 48 (1), 48-54, 2011
强制性开放获取政策： US National Institutes of Health, Canadian Institutes of Health Research …
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
A Vetro, MR Dehghani, L Kraoua, R Giorda, S Beri, L Cardarelli, M Merico, ...
European Journal of Human Genetics 23 (8), 1025-1032, 2015
强制性开放获取政策： Fondazione Telethon, Italy, Government of Italy
Role of mycotoxins in the pathobiology of autism: A first evidence
B De Santis, C Brera, A Mezzelani, S Soricelli, F Ciceri, G Moretti, ...
Nutritional neuroscience 22 (2), 132-144, 2019
强制性开放获取政策： Government of Italy
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome)
N Kurtas, F Arrigoni, E Errichiello, C Zucca, C Maghini, MG D’Angelo, ...
Journal of Medical Genetics 55 (4), 269-277, 2018
强制性开放获取政策： Fondazione Telethon, Italy, Government of Italy
De novo unbalanced translocations have a complex history/aetiology
MC Bonaglia, NE Kurtas, E Errichiello, S Bertuzzo, S Beri, MM Mehrjouy, ...
Human Genetics 137, 817-829, 2018
强制性开放获取政策： Danish Council for Independent Research, Fondazione Telethon, Italy …
Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA
MC Bonaglia, N Zanotta, R Giorda, G D’Angelo, C Zucca
Molecular Cytogenetics 8, 1-6, 2015
强制性开放获取政策： Government of Italy
Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH
A Vetro, D Goidin, I Lesende, I Limongelli, GN Ranzani, F Novara, ...
Clinical genetics 93 (3), 545-556, 2018
强制性开放获取政策： Fondazione Telethon, Italy
Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI
R Romaniello, F Arrigoni, P De Salvo, MC Bonaglia, E Panzeri, MT Bassi, ...
Annals of Clinical and Translational Neurology 8 (12), 2280-2288, 2021
强制性开放获取政策： Government of Italy
Refinement of the critical 7p22. 1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22. 1 microdeletion-related developmental disorders
O Palumbo, M Accadia, P Palumbo, MP Leone, A Scorrano, T Palladino, ...
European Journal of Medical Genetics 61 (5), 248-252, 2018
强制性开放获取政策： Government of Italy
Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22
SA Koza, AC Tabet, MC Bonaglia, S Andres, BM Anderlid, E Aten, ...
European journal of medical genetics 66 (7), 104773, 2023
强制性开放获取政策： National Institute for Health Research, UK, European Commission
Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome
AM Van Eeghen, D Stemkens, JR Fernández-Fructuoso, A Maruani, ...
European journal of medical genetics 66 (7), 104747, 2023
强制性开放获取政策： European Commission
Towards a European consensus guideline for Phelan-McDermid syndrome
CMA van Ravenswaaij-Arts, IDC van Balkom, S Jesse, MC Bonaglia
European journal of medical genetics 66 (5), 104736, 2023
强制性开放获取政策： European Commission
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
C Lowther, MM Mehrjouy, RL Collins, MC Bak, O Dudchenko, H Brand, ...
medRxiv, 2022.02. 15.22270795, 2022
强制性开放获取政策： US National Science Foundation, Fundação de Amparo à Pesquisa do Estado de …
Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study
F Raviglione, S Douzgou, M Scala, A Mingarelli, S D'Arrigo, E Freri, ...
Seizure 88, 60-72, 2021
强制性开放获取政策： Government of Italy
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