Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 1 |
2018 | 1 |
2019 | 2 |
2020 | 1 |
2022 | 1 |
2024 | 2 |
Search Results
7 results
Results by year
Filters applied: . Clear all
Page 1
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.
Nat Commun. 2019.
PMID: 31300657
Free PMC article.
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.
Accogli A, Shakya S, Yang T, Insinna C, Kim SY, Bell D, Butov KR, Severino M, Niceta M, Scala M, Lee HS, Yoo T, Stauffer J, Zhao H, Fiorillo C, Pedemonte M, Diana MC, Baldassari S, Zakharova V, Shcherbina A, Rodina Y, Fagerberg C, Roos LS, Wierzba J, Dobosz A, Gerard A, Potocki L, Rosenfeld JA, Lalani SR, Scott TM, Scott D, Azamian MS, Louie R, Moore HW, Champaigne NL, Hollingsworth G, Torella A, Nigro V, Ploski R, Salpietro V, Zara F, Pizzi S, Chillemi G, Ognibene M, Cooney E, Do J, Linnemann A, Larsen MJ, Specht S, Walters KJ, Choi HJ, Choi M, Tartaglia M, Youkharibache P, Chae JH, Capra V, Park SG, Westlake CJ.
Accogli A, et al.
Nat Commun. 2024 Jan 8;15(1):365. doi: 10.1038/s41467-023-44611-2.
Nat Commun. 2024.
PMID: 38191484
Free PMC article.
Item in Clipboard
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V.
Borgia P, et al.
Orphanet J Rare Dis. 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5.
Orphanet J Rare Dis. 2022.
PMID: 35854306
Free PMC article.
Item in Clipboard
HYPerspectral Enhanced Reality (HYPER): a physiology-based surgical guidance tool.
Barberio M, Longo F, Fiorillo C, Seeliger B, Mascagni P, Agnus V, Lindner V, Geny B, Charles AL, Gockel I, Worreth M, Saadi A, Marescaux J, Diana M.
Barberio M, et al.
Surg Endosc. 2020 Apr;34(4):1736-1744. doi: 10.1007/s00464-019-06959-9. Epub 2019 Jul 15.
Surg Endosc. 2020.
PMID: 31309313
Item in Clipboard
Transcriptome organization of white blood cells through gene co-expression network analysis in a large RNA-seq dataset.
Forabosco P, Pala M, Crobu F, Diana MA, Marongiu M, Cusano R, Angius A, Steri M, Orrù V, Schlessinger D, Fiorillo E, Devoto M, Cucca F.
Forabosco P, et al.
Front Immunol. 2024 Apr 2;15:1350111. doi: 10.3389/fimmu.2024.1350111. eCollection 2024.
Front Immunol. 2024.
PMID: 38629067
Free PMC article.
Item in Clipboard
Clinical and molecular consequences of exon 78 deletion in DMD gene.
Traverso M, Assereto S, Baratto S, Iacomino M, Pedemonte M, Diana MC, Ferretti M, Broda P, Minetti C, Gazzerro E, Madia F, Bruno C, Zara F, Fiorillo C.
Traverso M, et al.
J Hum Genet. 2018 Jun;63(6):761-764. doi: 10.1038/s10038-018-0439-6. Epub 2018 Mar 19.
J Hum Genet. 2018.
PMID: 29556034
Item in Clipboard
Assessment of eating disorders with the diabetes eating problems survey - revised (DEPS-R) in a representative sample of insulin-treated diabetic patients: a validation study in Italy.
Pinna F, Diana E, Sanna L, Deiana V, Manchia M, Nicotra E, Fiorillo A, Albert U, Nivoli A, Volpe U, Atti AR, Ferrari S, Medda F, Atzeni MG, Manca D, Mascia E, Farci F, Ghiani M, Cau R, Tuveri M, Cossu E, Loy E, Mereu A, Mariotti S, Carpiniello B.
Pinna F, et al.
BMC Psychiatry. 2017 Jul 19;17(1):262. doi: 10.1186/s12888-017-1434-8.
BMC Psychiatry. 2017.
PMID: 28724422
Free PMC article.
Item in Clipboard
Cite
Cite