Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

38 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G. Lepri FR, et al. Among authors: cocciadiferro d. Int J Mol Sci. 2017 Dec 28;19(1):82. doi: 10.3390/ijms19010082. Int J Mol Sci. 2017. PMID: 29283410 Free PMC article.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M. Morlino S, et al. Among authors: cocciadiferro d. Clin Genet. 2020 Mar;97(3):396-406. doi: 10.1111/cge.13683. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31794058
WWP1 germline variants are associated with normocephalic autism spectrum disorder.
Novelli G, Novelli A, Borgiani P, Cocciadiferro D, Biancolella M, Agolini E, Pietrosanto M, Casalone R, Helmer-Citterich M, Giardina E, Jain SK, Wei W, Eng C, Pandolfi PP. Novelli G, et al. Among authors: cocciadiferro d. Cell Death Dis. 2020 Jul 23;11(7):529. doi: 10.1038/s41419-020-2681-z. Cell Death Dis. 2020. PMID: 32699206 Free PMC article. No abstract available.
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients.
Novelli A, Biancolella M, Borgiani P, Cocciadiferro D, Colona VL, D'Apice MR, Rogliani P, Zaffina S, Leonardis F, Campana A, Raponi M, Andreoni M, Grelli S, Novelli G. Novelli A, et al. Among authors: cocciadiferro d, d apice mr. Hum Genomics. 2020 Sep 11;14(1):29. doi: 10.1186/s40246-020-00279-z. Hum Genomics. 2020. PMID: 32917283 Free PMC article.
38 results