Daniele Rusconi

Clinical and molecular characterization of Rubinstein‐Taybi syndrome patients carrying distinct novel mutations of the <i><scp>EP300</scp></i> gene

Gloria Negri, Donatella Milani, P. Colapietro et al. · Clinical Genetics · 2014 · 86 citations

Rubinstein-taybi Syndrome, Brain Development, Genetics +26

Gene dosage as a relevant mechanism contributing to the determination of ovarian function in Turner syndrome

Chiara Castronovo, Raffaella Rossetti, Daniele Rusconi et al. · Human Reproduction · 2013 · 78 citations · Full text

Insights into genotype–phenotype correlations from <i><scp>CREBBP</scp></i> point mutation screening in a cohort of 46 Rubinstein–Taybi syndrome patients

Silvia Spena, Donatella Milani, Daniele Rusconi et al. · Clinical Genetics · 2014 · 65 citations

Rubinstein-taybi Syndrome, Creb-binding Protein, Genetics +17

Barriers and facilitators of electronic patient-reported outcome measures (e-PROMs) for patients in home palliative cancer care: a qualitative study of healthcare professionals’ perceptions

Letteria Consolo, S Colombo, Ilaria Basile et al. · BMC Palliative Care · 2023 · 16 citations · Full text