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

Year Number of Results
1970 1
1988 1
1996 3
1998 1
1999 3
2000 4
2001 5
2002 9
2003 16
2004 8
2005 17
2006 8
2007 3
2008 3
2009 13
2010 9
2011 8
2012 5
2013 6
2014 6
2015 3
2016 1
2017 1
2018 1
2019 3
2020 5
2021 2
2022 5
2023 2
2024 0

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142 results

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Page 1
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.
Calì E, Lin SJ, Rocca C, Sahin Y, Al Shamsi A, El Chehadeh S, Chaabouni M, Mankad K, Galanaki E, Efthymiou S, Sudhakar S, Athanasiou-Fragkouli A, Çelik T, Narlı N, Bianca S, Murphy D, De Carvalho Moreira FM; SYNaPS Study Group; Andrea Accogli, Petree C, Huang K, Monastiri K, Edizadeh M, Nardello R, Ognibene M, De Marco P, Ruggieri M, Zara F, Striano P, Şahin Y, Al-Gazali L, Abi Warde MT, Gerard B, Zifarelli G, Beetz C, Fortuna S, Soler M, Valente EM, Varshney G, Maroofian R, Salpietro V, Houlden H. Calì E, et al. Among authors: bianca s. Genet Med. 2022 Oct;24(10):2194-2203. doi: 10.1016/j.gim.2022.07.013. Epub 2022 Aug 24. Genet Med. 2022. PMID: 36001086 Free PMC article.
Harlequin foetus.
Bianca S, Ingegnosi C, Bonaffini F. Bianca S, et al. J Postgrad Med. 2003 Jan-Mar;49(1):81-2. doi: 10.4103/0022-3859.921. J Postgrad Med. 2003. PMID: 12865578 Free article. No abstract available.
Stereoselective Protection-Free Modification of 3-Keto-saccharides.
Marinus N, Tahiri N, Duca M, Mouthaan LMCM, Bianca S, van den Noort M, Poolman B, Witte MD, Minnaard AJ. Marinus N, et al. Among authors: bianca s. Org Lett. 2020 Jul 17;22(14):5622-5626. doi: 10.1021/acs.orglett.0c01986. Epub 2020 Jul 7. Org Lett. 2020. PMID: 32635733 Free PMC article.
Down's syndrome.
Bianca S. Bianca S. Lancet. 2003 Jul 5;362(9377):81. doi: 10.1016/S0140-6736(03)13826-3. Lancet. 2003. PMID: 12853216 No abstract available.
12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.
Recalcati MP, Catusi I, Garzo M, Redaelli S, Massimello M, Maitz SB, Gentile M, Ponzi E, Orsini P, Zilio A, Montaldi A, Calò A, Capra AP, Briuglia S, La Rosa MA, Grillo L, Romano C, Bianca S, Malacarne M, Busè M, Piccione M, Larizza L. Recalcati MP, et al. Among authors: bianca s. Genes (Basel). 2022 Apr 27;13(5):780. doi: 10.3390/genes13050780. Genes (Basel). 2022. PMID: 35627165 Free PMC article. Review.
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: bianca 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.
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).
Baldelli I, Baccarani A, Barone C, Bedeschi F, Bianca S, Calabrese O, Castori M, Catena N, Corain M, Costanzo S, Barbato GP, De Stefano S, Divizia MT, Feletti F, Formica M, Lando M, Lerone M, Lorenzetti F, Martinoli C, Mellini L, Nava MB, Porcellini G, Puliti A, Romanini MV, Rondoni F, Santi P, Sartini S, Senes F, Spada L, Tarani L, Valle M, Venturino C, Zaottini F, Torre M, Crimi M. Baldelli I, et al. Among authors: bianca s. Orphanet J Rare Dis. 2020 Aug 5;15(1):201. doi: 10.1186/s13023-020-01481-x. Orphanet J Rare Dis. 2020. PMID: 32758259 Free PMC article. Review.
Down syndrome.
Bianca S, Bianca M. Bianca S, et al. Arch Med Res. 2005 Mar-Apr;36(2):183; author reply 184-5. doi: 10.1016/j.arcmed.2004.12.017. Arch Med Res. 2005. PMID: 15847955 No abstract available.
Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.
Capalbo A, Gabbiato I, Caroselli S, Picchetta L, Cavalli P, Lonardo F, Bianca S, Giardina E, Zuccarello D. Capalbo A, et al. Among authors: bianca s. J Assist Reprod Genet. 2022 Nov;39(11):2581-2593. doi: 10.1007/s10815-022-02653-3. Epub 2022 Nov 12. J Assist Reprod Genet. 2022. PMID: 36370240 Free PMC article. Review.
142 results