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

Year Number of Results
2002 1
2004 2
2005 3
2006 2
2007 2
2008 4
2009 3
2011 4
2012 3
2013 2
2014 3
2015 5
2016 1
2017 3
2018 3
2019 5
2020 4
2021 3
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45 results
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Page 1
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ. Amor DJ, et al. Among authors: capolino r. Am J Hum Genet. 2019 May 2;104(5):914-924. doi: 10.1016/j.ajhg.2019.02.026. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982611 Free PMC article.
KBG syndrome: Common and uncommon clinical features based on 31 new patients.
Gnazzo M, Lepri FR, Dentici ML, Capolino R, Pisaneschi E, Agolini E, Rinelli M, Alesi V, Versacci P, Genovese S, Cesario C, Sinibaldi L, Baban A, Bartuli A, Marino B, Cappa M, Dallapiccola B, Novelli A, Digilio MC. Gnazzo M, et al. Among authors: capolino r. Am J Med Genet A. 2020 May;182(5):1073-1083. doi: 10.1002/ajmg.a.61524. Epub 2020 Mar 3. Am J Med Genet A. 2020. PMID: 32124548
7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling.
Dentici ML, Bergonzini P, Scibelli F, Caciolo C, De Rose P, Cumbo F, Alesi V, Capolino R, Zanni G, Sinibaldi L, Novelli A, Tartaglia M, Digilio MC, Dallapiccola B, Vicari S, Alfieri P. Dentici ML, et al. Among authors: capolino r. Brain Sci. 2020 Nov 11;10(11):839. doi: 10.3390/brainsci10110839. Brain Sci. 2020. PMID: 33187326 Free PMC article.
Defining language disorders in children and adolescents with Noonan Syndrome.
Lazzaro G, Caciolo C, Menghini D, Cumbo F, Digilio MC, Capolino R, Zampino G, Tartaglia M, Vicari S, Alfieri P. Lazzaro G, et al. Among authors: capolino r. Mol Genet Genomic Med. 2020 Apr;8(4):e1069. doi: 10.1002/mgg3.1069. Epub 2020 Feb 14. Mol Genet Genomic Med. 2020. PMID: 32059087 Free PMC article.
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini MV, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A. Dentici ML, et al. Among authors: capolino r. Am J Med Genet A. 2020 Aug;182(8):1977-1984. doi: 10.1002/ajmg.a.61719. Epub 2020 Jun 23. Am J Med Genet A. 2020. PMID: 32573066
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.
Pinna V, Daniele P, Calcagni G, Mariniello L, Criscione R, Giardina C, Lepri FR, Hozhabri H, Alberico A, Cavone S, Morella AT, Mandile R, Annunziata F, Di Giosaffatte N, D'Asdia MC, Versacci P, Capolino R, Strisciuglio P, Giustini S, Melis D, Digilio MC, Tartaglia M, Marino B, De Luca A. Pinna V, et al. Among authors: capolino r. Genes (Basel). 2019 Sep 4;10(9):675. doi: 10.3390/genes10090675. Genes (Basel). 2019. PMID: 31487937 Free PMC article.
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations.
Niceta M, Barresi S, Pantaleoni F, Capolino R, Dentici ML, Ciolfi A, Pizzi S, Bartuli A, Dallapiccola B, Tartaglia M, Digilio MC. Niceta M, et al. Among authors: capolino r. Eur J Med Genet. 2019 Jun;62(6):103534. doi: 10.1016/j.ejmg.2018.09.001. Epub 2018 Sep 3. Eur J Med Genet. 2019. PMID: 30189253 Free article. Review.
Hypoplastic left heart syndrome and 21q22.3 deletion.
Ciocca L, Digilio MC, Lombardo A, D'Elia G, Baban A, Capolino R, Petrocchi S, Russo S, Sirleto P, Roberti MC, Marino B, Angioni A, Dallapiccola B. Ciocca L, et al. Among authors: capolino r. Am J Med Genet A. 2015 Mar;167A(3):579-86. doi: 10.1002/ajmg.a.36914. Epub 2015 Feb 7. Am J Med Genet A. 2015. PMID: 25663264 Review.
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