Concepedia

Cecilia Daolio

CD

Statistics

Publications

4

Citations

234

H-Index

4

Active since

2011

Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico(Current)

Bambino Gesù Children's Hospital

University of Catania

University of Padua

Cecilia Daolio is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in genetics, medical genetics, and molecular genetics.

Publications per year

2011–2022

4

Publications

4

Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients

Lucia Micale, Bartolomeo Augello, Carmela Fusco et al. · Orphanet Journal of Rare Diseases · 2011 · 99 citations · Full text

, , +16

The Pitt‐Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi et al. · American Journal of Medical Genetics Part A · 2011 · 79 citations

, , +17

The Arg1038Gly missense variant in the <i>NF1</i> gene causes a mild phenotype without neurofibromas

Eva Trevisson, Valeria Morbidoni, Monica Forzan et al. · Molecular Genetics & Genomic Medicine · 2019 · 37 citations · Full text

, , +14

Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny

Pierpaola Tannorella, Luciano Calzari, Cecilia Daolio et al. · Clinical Epigenetics · 2022 · 19 citations · Full text

, , +17

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