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 NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2004 5
2005 1
2006 4
2007 5
2008 5
2009 10
2010 6
2011 3
2012 7
2013 11
2014 8
2015 14
2016 8
2017 14
2018 27
2019 36
2020 53
2021 49
2022 53
2023 65
2024 27

Text availability

Article attribute

Article type

Publication date

Search Results

358 results

Results by year

Filters applied: . Clear all
Page 1
Prenatal identification of a pathogenic maternal FGFR1 variant in two consecutive pregnancies with fetal forebrain malformations.
Graziani L, Nuovo S, Pisaneschi E, Carriero ML, Baghernajad Salehi L, Nardone AM, Manganaro L, Novelli A, D'Apice MR, Mappa I, Novelli G. Graziani L, et al. Among authors: novelli a. J Matern Fetal Neonatal Med. 2024 Dec;37(1):2344718. doi: 10.1080/14767058.2024.2344718. Epub 2024 Apr 28. J Matern Fetal Neonatal Med. 2024. PMID: 38679587 Free article.
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Among authors: novelli a. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.
Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.
Baban A, Parlapiano G, Cicenia M, Armando M, Franceschini A, Pacifico C, Panfili A, Zinzanella G, Romanzo A, Fusco A, Caiazza M, Perri G, Galletti L, Digilio MC, Buonuomo PS, Bartuli A, Novelli A, Raponi M, Limongelli G. Baban A, et al. Among authors: novelli a. J Cardiovasc Dev Dis. 2024 Apr 3;11(4):114. doi: 10.3390/jcdd11040114. J Cardiovasc Dev Dis. 2024. PMID: 38667733 Free PMC article. Review.
Patient preferences in genetic newborn screening for rare diseases: study protocol.
Martin S, Angolini E, Audi J, Bertini DE, Bruno LP, Coulter J, Ferlini A, Fortunato F, Frankova V, Garnier N, Grauman Å, Gross E, Hauber B, Hansson M, Kirschner J, Knieling F, Kyosovksa G, Ottombrino S, Novelli A, Raming R, Sansen S, Saier C, Veldwijk J. Martin S, et al. Among authors: novelli a. BMJ Open. 2024 Apr 19;14(4):e081835. doi: 10.1136/bmjopen-2023-081835. BMJ Open. 2024. PMID: 38643010 Free PMC article.
Cross-sectional study on autosomal recessive congenital ichthyoses: association of genotype with disease severity, phenotypic and ultrastructural features in 74 Italian patients.
Diociaiuti A, Corbeddu M, Rossi S, Pisaneschi E, Cesario C, Condorelli AG, Samela T, Giancristoforo S, Angioni A, Zambruno G, Novelli A, Alaggio R, Abeni D, El Hachem M. Diociaiuti A, et al. Among authors: novelli a. Dermatology. 2024 Apr 8. doi: 10.1159/000536366. Online ahead of print. Dermatology. 2024. PMID: 38588653
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.
Calcagni G, Ferrigno F, Franceschini A, Dentici ML, Capolino R, Sinibaldi L, Minotti C, Micalizzi A, Alesi V, Novelli A, Baban A, Parlapiano G, Coviello D, Versacci P, Putotto C, Chinali M, Drago F, Bartuli A, Marino B, Digilio MC. Calcagni G, et al. Among authors: novelli a. Diagnostics (Basel). 2024 Mar 11;14(6):594. doi: 10.3390/diagnostics14060594. Diagnostics (Basel). 2024. PMID: 38535015 Free PMC article.
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.
Niceta M, Ciolfi A, Ferilli M, Pedace L, Cappelletti C, Nardini C, Hildonen M, Chiriatti L, Miele E, Dentici ML, Gnazzo M, Cesario C, Pisaneschi E, Baban A, Novelli A, Maitz S, Selicorni A, Squeo GM, Merla G, Dallapiccola B, Tumer Z, Digilio MC, Priolo M, Tartaglia M. Niceta M, et al. Among authors: novelli a. Eur J Hum Genet. 2024 Mar 25. doi: 10.1038/s41431-024-01597-9. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38528056
358 results