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

Year Number of Results
1960 1
1977 1
1979 1
1981 1
1983 1
1986 4
1987 2
1991 4
1993 2
1994 4
1995 5
1996 3
1997 6
1999 5
2000 2
2001 3
2002 6
2003 2
2004 7
2005 11
2006 6
2007 3
2008 7
2009 8
2010 10
2011 17
2012 7
2013 11
2014 13
2015 11
2016 21
2017 22
2018 17
2019 21
2020 20
2021 28
2022 21
2023 19

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290 results

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Page 1
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Among authors: lorenzo dn. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
MYD88 L265P mutation and interleukin-10 detection in cerebrospinal fluid are highly specific discriminating markers in patients with primary central nervous system lymphoma: results from a prospective study.
Ferreri AJM, Calimeri T, Lopedote P, Francaviglia I, Daverio R, Iacona C, Belloni C, Steffanoni S, Gulino A, Anghileri E, Diffidenti A, Finardi A, Gagliardi F, Anzalone N, Nonis A, Furlan R, De Lorenzo D, Terreni MR, Martinelli V, Sassone M, Foppoli M, Angelillo P, Guggiari E, Falini A, Mortini P, Filippi M, Tarantino V, Eoli M, Ciceri F, Doglioni C, Tripodo C, Locatelli M, Cangi MG, Ponzoni M. Ferreri AJM, et al. Among authors: de lorenzo d. Br J Haematol. 2021 May;193(3):497-505. doi: 10.1111/bjh.17357. Epub 2021 Feb 23. Br J Haematol. 2021. PMID: 33620087 Clinical Trial.
Ethical questions concerning newborn genetic screening.
Esquerda M, Palau F, Lorenzo D, Cambra FJ, Bofarull M, Cusi V, Interdisciplinar En Bioetica G. Esquerda M, et al. Among authors: lorenzo d. Clin Genet. 2021 Jan;99(1):93-98. doi: 10.1111/cge.13828. Epub 2020 Sep 2. Clin Genet. 2021. PMID: 32779199 Review.
Local Resection in Choroidal Melanoma: A Review.
Caminal JM, Lorenzo D, Gutierrez C, Slocker A, Piulats JM, Cobos E, Garcia-Bru P, Morwani R, Santamaria JF, Arias L. Caminal JM, et al. Among authors: lorenzo d. J Clin Med. 2022 Dec 1;11(23):7156. doi: 10.3390/jcm11237156. J Clin Med. 2022. PMID: 36498730 Free PMC article. Review.
Jaundice and double-duct sign: Always cancer?
Lorenzo D, Verset L, Devière J. Lorenzo D, et al. Endosc Ultrasound. 2022 Jan-Feb;11(1):77-78. doi: 10.4103/EUS-D-20-00240. Endosc Ultrasound. 2022. PMID: 34213430 Free PMC article. No abstract available.
Current applications of precision medicine: a bibliometric analysis.
Williams JR, Lorenzo D, Salerno J, Yeh VM, Mitrani VB, Kripalani S. Williams JR, et al. Among authors: lorenzo d. Per Med. 2019 Jul;16(4):351-359. doi: 10.2217/pme-2018-0089. Epub 2019 Jul 3. Per Med. 2019. PMID: 31267841 Free PMC article. Review.
Map of ethical conflicts of the CRISPR-Cas9 gene edition technique.
Lorenzo D, Esquerda M; Grupo Interdisciplinar en Bioética. Lorenzo D, et al. Med Clin (Barc). 2019 Nov 15;153(9):357-359. doi: 10.1016/j.medcli.2019.03.024. Epub 2019 Jun 25. Med Clin (Barc). 2019. PMID: 31248623 English, Spanish. No abstract available.
Iron and Neurodegeneration: Is Ferritinophagy the Link?
Biasiotto G, Di Lorenzo D, Archetti S, Zanella I. Biasiotto G, et al. Among authors: di lorenzo d. Mol Neurobiol. 2016 Oct;53(8):5542-74. doi: 10.1007/s12035-015-9473-y. Epub 2015 Oct 14. Mol Neurobiol. 2016. PMID: 26468157 Review.
290 results