Concepedia

Francesco Saettini

FS

16

Publications

365

Citations

12

H-Index

2013

Active since

Affiliations

University of Milano-Bicocca(Current)

Azienda Ospedaliera San Gerardo

Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia

Istituti di Ricovero e Cura a Carattere Scientifico

Ospedale Papa Giovanni XXIII

Francesco Saettini is an author at University of Milano-Bicocca specializing in medicine, pediatrics, and pathology.

Top concepts

MedicinePathologyPediatricsClassicsGeneticsImmunologyPsychiatryAutoimmunityPharmacologyEarly Diagnosis

Publications per year

2013–2024

16

Publications

16

Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría et al. · Brain · 2021 · 47 citations · Full text

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype

Romina Romaniello, Francesco Saettini, Elena Panzeri et al. · Neuroreport · 2015 · 44 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +11

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

Giulio Tessarin, Stefano Rossi, Manuela Baronio et al. · Journal of Clinical Medicine · 2020 · 44 citations · Full text

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency

Francesco Saettini, M. Cecilia Poli, Jaime Vengoechea et al. · Blood · 2020 · 43 citations · Full text

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Didier Lacombe, Agnès Bloch‐Zupan, Cecilie Bredrup et al. · Journal of Medical Genetics · 2024 · 34 citations · Full text

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