Concepedia
Statistics
Publications
16
Citations
525
H-Index
11
Active since
2014
Affiliations
Bambino Gesù Children's Hospital(Current)
Istituti di Ricovero e Cura a Carattere Scientifico
Sapienza University of Rome
Università Cattolica del Sacro Cuore
Copenhagen University Hospital
Maria Gnazzo is an author at Bambino Gesù Children's Hospital specializing in genetics, medical genetics, and human genetics.
Publications per year
2014–2024
Congenital heart defects in molecularly proven Kabuki syndrome patients
M. Cristina Digilio, Maria Gnazzo, Francesca Romana Lepri et al. · American Journal of Medical Genetics Part A · 2017 · 88 citations
Medicine, Cardiology, Genetics +16
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
Viviana Cordeddu, Jiani C. Yin, Cecilia Gunnarsson et al. · Human Mutation · 2015 · 82 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Víctor Faùndes, Stephanie Goh, Rhoda Akilapa et al. · Genetics in Medicine · 2021 · 70 citations · Full text
Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
Francesca Romana Lepri, Rossana Scavelli, M. Cristina Digilio et al. · BMC Medical Genetics · 2014 · 68 citations · Full text
KBG syndrome: Common and uncommon clinical features based on 31 new patients
Maria Gnazzo, Francesca Romana Lepri, Maria Lisa Dentici et al. · American Journal of Medical Genetics Part A · 2020 · 47 citations
Dentistry, Oral Biology, Genodermatoses +14
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