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

Year Number of Results
2002 3
2003 2
2005 3
2007 5
2008 3
2009 3
2011 4
2012 3
2013 4
2014 8
2015 12
2016 9
2017 11
2018 12
2019 17
2020 11
2021 25
2022 11
2023 10
2024 7

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145 results

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Page 1
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.
Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E. Allach El Khattabi L, et al. Among authors: rossi m. J Med Genet. 2020 May;57(5):301-307. doi: 10.1136/jmedgenet-2018-105389. Epub 2018 Oct 4. J Med Genet. 2020. PMID: 30287593
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
Bonardi CM, Heyne HO, Fiannacca M, Fitzgerald MP, Gardella E, Gunning B, Olofsson K, Lesca G, Verbeek N, Stamberger H, Striano P, Zara F, Mancardi MM, Nava C, Syrbe S, Buono S, Baulac S, Coppola A, Weckhuysen S, Schoonjans AS, Ceulemans B, Sarret C, Baumgartner T, Muhle H, Portes VD, Toulouse J, Nougues MC, Rossi M, Demarquay G, Ville D, Hirsch E, Maurey H, Willems M, de Bellescize J, Altuzarra CD, Villeneuve N, Bartolomei F, Picard F, Hornemann F, Koolen DA, Kroes HY, Reale C, Fenger CD, Tan WH, Dibbens L, Bearden DR, Møller RS, Rubboli G. Bonardi CM, et al. Among authors: rossi m. Brain. 2021 Dec 31;144(12):3635-3650. doi: 10.1093/brain/awab219. Brain. 2021. PMID: 34114611
Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.
Savarirayan R, De Bergua JM, Arundel P, McDevitt H, Cormier-Daire V, Saraff V, Skae M, Delgado B, Leiva-Gea A, Santos-Simarro F, Salles JP, Nicolino M, Rossi M, Kannu P, Bober MB, Phillips J 3rd, Saal H, Harmatz P, Burren C, Gotway G, Cho T, Muslimova E, Weng R, Rogoff D, Hoover-Fong J, Irving M. Savarirayan R, et al. Among authors: rossi m. Ther Adv Musculoskelet Dis. 2022 Mar 21;14:1759720X221084848. doi: 10.1177/1759720X221084848. eCollection 2022. Ther Adv Musculoskelet Dis. 2022. PMID: 35342457 Free PMC article.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
Clinical delineation of SETBP1 haploinsufficiency disorder.
Jansen NA, Braden RO, Srivastava S, Otness EF, Lesca G, Rossi M, Nizon M, Bernier RA, Quelin C, van Haeringen A, Kleefstra T, Wong MMK, Whalen S, Fisher SE, Morgan AT, van Bon BW. Jansen NA, et al. Among authors: rossi m. Eur J Hum Genet. 2021 Aug;29(8):1198-1205. doi: 10.1038/s41431-021-00888-9. Epub 2021 Apr 19. Eur J Hum Genet. 2021. PMID: 33867525 Free PMC article.
Flavonoids: A Myth or a Reality for Cancer Therapy?
Forni C, Rossi M, Borromeo I, Feriotto G, Platamone G, Tabolacci C, Mischiati C, Beninati S. Forni C, et al. Among authors: rossi m. Molecules. 2021 Jun 11;26(12):3583. doi: 10.3390/molecules26123583. Molecules. 2021. PMID: 34208196 Free PMC article. Review.
Finding Overlapping Rmaps via Clustering.
Mukherjee K, Dole-Muinos D, Ajayi A, Rossi M, Prosperi M, Boucher C. Mukherjee K, et al. Among authors: rossi m. IEEE/ACM Trans Comput Biol Bioinform. 2021 Dec 10;PP. doi: 10.1109/TCBB.2021.3132534. Online ahead of print. IEEE/ACM Trans Comput Biol Bioinform. 2021. PMID: 34890332
Finding Maximal Exact Matches Using the r-Index.
Rossi M, Oliva M, Bonizzoni P, Langmead B, Gagie T, Boucher C. Rossi M, et al. J Comput Biol. 2022 Feb;29(2):188-194. doi: 10.1089/cmb.2021.0445. Epub 2022 Jan 17. J Comput Biol. 2022. PMID: 35041518 Free PMC article.
PFP Compressed Suffix Trees.
Boucher C, Cvacho O, Gagie T, Holub J, Manzini G, Navarro G, Rossi M. Boucher C, et al. Among authors: rossi m. Proc Worksh Algorithm Eng Exp. 2021;2021:60-72. doi: 10.1137/1.9781611976472.5. Proc Worksh Algorithm Eng Exp. 2021. PMID: 35355938 Free PMC article.
145 results