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

Year Number of Results
2005 2
2006 3
2007 9
2008 9
2009 9
2010 14
2011 10
2012 10
2013 9
2014 8
2015 4
2016 3
2017 2
2018 1
2019 1
2020 4
2022 1
2024 0

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82 results

Results by year

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Page 1
Familial Poland anomaly revisited.
Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG. Baban A, et al. Among authors: gimelli s. Am J Med Genet A. 2012 Jan;158A(1):140-9. doi: 10.1002/ajmg.a.34370. Epub 2011 Nov 22. Am J Med Genet A. 2012. PMID: 22110015 Review.
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
Fokstuen S, Makrythanasis P, Hammar E, Guipponi M, Ranza E, Varvagiannis K, Santoni FA, Albarca-Aguilera M, Poleggi ME, Couchepin F, Brockmann C, Mauron A, Hurst SA, Moret C, Gehrig C, Vannier A, Bevillard J, Araud T, Gimelli S, Stathaki E, Paoloni-Giacobino A, Bottani A, Sloan-Béna F, Sizonenko LD, Mostafavi M, Hamamy H, Nouspikel T, Blouin JL, Antonarakis SE. Fokstuen S, et al. Among authors: gimelli s. Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Hum Genomics. 2016. PMID: 27353043 Free PMC article. Review.
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J. Béna F, et al. Among authors: gimelli s. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23533028 Review.
Genomic analysis of cattle rob(1;29).
De Lorenzi L, Genualdo V, Gimelli S, Rossi E, Perucatti A, Iannuzzi A, Zannotti M, Malagutti L, Molteni L, Iannuzzi L, Parma P. De Lorenzi L, et al. Among authors: gimelli s. Chromosome Res. 2012 Oct;20(7):815-23. doi: 10.1007/s10577-012-9315-y. Epub 2012 Oct 9. Chromosome Res. 2012. PMID: 23053571
MECP2 duplication syndrome in a patient from Cameroon.
Tekendo-Ngongang C, Dahoun S, Nguefack S, Moix I, Gimelli S, Zambo H, Morris MA, Sloan-Béna F, Wonkam A. Tekendo-Ngongang C, et al. Among authors: gimelli s. Am J Med Genet A. 2020 Apr;182(4):619-622. doi: 10.1002/ajmg.a.61510. Epub 2020 Feb 13. Am J Med Genet A. 2020. PMID: 32052928 Free PMC article.
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
Striano P, Coppola A, Paravidino R, Malacarne M, Gimelli S, Robbiano A, Traverso M, Pezzella M, Belcastro V, Bianchi A, Elia M, Falace A, Gazzerro E, Ferlazzo E, Freri E, Galasso R, Gobbi G, Molinatto C, Cavani S, Zuffardi O, Striano S, Ferrero GB, Silengo M, Cavaliere ML, Benelli M, Magi A, Piccione M, Dagna Bricarelli F, Coviello DA, Fichera M, Minetti C, Zara F. Striano P, et al. Among authors: gimelli s. Arch Neurol. 2012 Mar;69(3):322-30. doi: 10.1001/archneurol.2011.1999. Epub 2011 Nov 14. Arch Neurol. 2012. PMID: 22083797 Free article. Review.
Hyaline Cartilage Microtissues Engineered from Adult Dedifferentiated Chondrocytes: Safety and Role of WNT Signaling.
Kutaish H, Bengtsson L, Matthias Tscholl P, Marteyn A, Braunersreuther V, Guérin A, Béna F, Gimelli S, Longet D, Ilmjärv S, Dietrich PY, Gerstel E, Jaquet V, Hannouche D, Menetrey J, Assal M, Krause KH, Cosset E, Tieng V. Kutaish H, et al. Among authors: gimelli s. Stem Cells Transl Med. 2022 Dec 30;11(12):1219-1231. doi: 10.1093/stcltm/szac074. Stem Cells Transl Med. 2022. PMID: 36318262 Free PMC article.
2q24-q31 deletion: report of a case and review of the literature.
Pescucci C, Caselli R, Grosso S, Mencarelli MA, Mari F, Farnetani MA, Piccini B, Artuso R, Bruttini M, Priolo M, Zuffardi O, Gimelli S, Balestri P, Renieri A. Pescucci C, et al. Among authors: gimelli s. Eur J Med Genet. 2007 Jan-Feb;50(1):21-32. doi: 10.1016/j.ejmg.2006.09.001. Epub 2006 Sep 17. Eur J Med Genet. 2007. PMID: 17088112 Review.
West syndrome associated with 14q12 duplications harboring FOXG1.
Striano P, Paravidino R, Sicca F, Chiurazzi P, Gimelli S, Coppola A, Robbiano A, Traverso M, Pintaudi M, Giovannini S, Operto F, Vigliano P, Granata T, Coppola G, Romeo A, Specchio N, Giordano L, Osborne LR, Gimelli G, Minetti C, Zara F. Striano P, et al. Among authors: gimelli s. Neurology. 2011 May 3;76(18):1600-2. doi: 10.1212/WNL.0b013e3182194bbf. Neurology. 2011. PMID: 21536641 No abstract available.
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.
Bagheri-Fam S, Chen H, Wilson S, Ayers K, Hughes J, Sloan-Bena F, Calvel P, Robevska G, Puisac B, Kusz-Zamelczyk K, Gimelli S, Spik A, Jaruzelska J, Warenik-Szymankiewicz A, Faradz S, Nef S, Pié J, Thomas P, Sinclair A, Wilhelm D. Bagheri-Fam S, et al. Among authors: gimelli s. PLoS One. 2020 Jan 7;15(1):e0227411. doi: 10.1371/journal.pone.0227411. eCollection 2020. PLoS One. 2020. PMID: 31910233 Free PMC article.
82 results