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Carmelilia De Bernardo

Carlo Forlanini Hospital(IT)

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45

Papers

1.1K

Citations

19

h-index

27

i10-index

Carmelilia De Bernardo is an academic researcher from Carlo Forlanini Hospital. The author has contributed to research in topics: Iron Metabolism and Disorders & Hemoglobinopathies and Related Disorders & Trace Elements in Health. The author has an h-index of 19, co-authored 39 publications.

Research Topics

Iron Metabolism and Disorders Hemoglobinopathies and Related Disorders Trace Elements in Health Cutaneous Melanoma Detection and Management Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Papers by this author

works

Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

2013 · BMC Research Notes · 29 citations

https://doi.org/10.1186/1756-0500-6-376

Irene Bottillo Marco Castori Carmelilia De Bernardo Romano Fabbri

Late diagnosis of lateral meningocele syndrome in a 55‐year‐old woman with symptoms of joint instability and chronic musculoskeletal pain

2013 · American Journal of Medical Genetics Part A · 22 citations

https://doi.org/10.1002/ajmg.a.36301

Marco Castori Silvia Morlino Marco Ritelli Francesco Brancati

Molecular characterization of 11 Italian patients with Darier Disease

2011 · European Journal of Dermatology · 15 citations

https://doi.org/10.1684/ejd.2011.1339

Lucia Pedace Luana Barboni Erika Pozzetto A. Amantea

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy

2016 · Data in Brief · 2 citations

https://doi.org/10.1016/j.dib.2016.03.004

Irene Bottillo Daniela D’Angelantonio Viviana Caputo Alessandro Paiardini

Research topics

topics

Iron Metabolism and Disorders

Hemoglobinopathies and Related Disorders

Trace Elements in Health

Cutaneous Melanoma Detection and Management

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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