Diana Carli

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome

Alessandro Mussa, Cristina Molinatto, Flavia Cerrato et al. · PEDIATRICS · 2017 · 143 citations

Medicine, Obstetrics, Infertility +14

Complications of Particle Embolization of Meningiomas: Frequency, Risk Factors, and Outcome: Fig 1.

Diana Carli, M. Sluzewski, Guus Beute et al. · American Journal of Neuroradiology · 2009 · 130 citations · Full text

Medicine, Neurosurgery, Surgery +11

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

Laura Bryant, Dong Li, Samuel G. Cox et al. · Science Advances · 2020 · 99 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

Eleonora Di Gregorio, Evelise Riberi, Elga Fabia Belligni et al. · Clinical Genetics · 2017 · 88 citations

Life Sciences, Genetics, Molecular Genetics +17

MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

Alessandro Mussa, Diana Carli, Elisa Giorgio et al. · Genes · 2021 · 55 citations · Full text

Medicine, Cardiology, Pharmacotherapy +17