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

Year Number of Results
1946 1
1951 1
1961 1
1963 1
1964 1
1976 1
1989 1
1993 1
1994 6
1995 22
1996 39
1997 43
1998 60
1999 45
2000 72
2001 67
2002 67
2003 74
2004 116
2005 148
2006 215
2007 268
2008 338
2009 354
2010 324
2011 327
2012 332
2013 292
2014 288
2015 307
2016 283
2017 267
2018 224
2019 203
2020 171
2021 155
2022 40
2023 45
2024 21

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4,673 results

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Page 1
Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.
Spaan AN, Neehus AL, Laplantine E, Staels F, Ogishi M, Seeleuthner Y, Rapaport F, Lacey KA, Van Nieuwenhove E, Chrabieh M, Hum D, Migaud M, Izmiryan A, Lorenzo L, Kochetkov T, Heesterbeek DAC, Bardoel BW, DuMont AL, Dobbs K, Chardonnet S, Heissel S, Baslan T, Zhang P, Yang R, Bogunovic D, Wunderink HF, Haas PA, Molina H, Van Buggenhout G, Lyonnet S, Notarangelo LD, Seppänen MRJ, Weil R, Seminario G, Gomez-Tello H, Wouters C, Mesdaghi M, Shahrooei M, Bossuyt X, Sag E, Topaloglu R, Ozen S, Leavis HL, van Eijk MMJ, Bezrodnik L, Blancas Galicia L, Hovnanian A, Nassif A, Bader-Meunier B, Neven B, Meyts I, Schrijvers R, Puel A, Bustamante J, Aksentijevich I, Kastner DL, Torres VJ, Humblet-Baron S, Liston A, Abel L, Boisson B, Casanova JL. Spaan AN, et al. Science. 2022 Jun 17;376(6599):eabm6380. doi: 10.1126/science.abm6380. Epub 2022 Jun 17. Science. 2022. PMID: 35587511 Free PMC article.
Why haploinsufficiency persists.
Morrill SA, Amon A. Morrill SA, et al. Proc Natl Acad Sci U S A. 2019 Jun 11;116(24):11866-11871. doi: 10.1073/pnas.1900437116. Epub 2019 May 29. Proc Natl Acad Sci U S A. 2019. PMID: 31142641 Free PMC article.
Evaluation of mitochondrial DNA copy number estimation techniques.
Longchamps RJ, Castellani CA, Yang SY, Newcomb CE, Sumpter JA, Lane J, Grove ML, Guallar E, Pankratz N, Taylor KD, Rotter JI, Boerwinkle E, Arking DE. Longchamps RJ, et al. PLoS One. 2020 Jan 31;15(1):e0228166. doi: 10.1371/journal.pone.0228166. eCollection 2020. PLoS One. 2020. PMID: 32004343 Free PMC article.
Causes and effects of haploinsufficiency.
Johnson AF, Nguyen HT, Veitia RA. Johnson AF, et al. Biol Rev Camb Philos Soc. 2019 Oct;94(5):1774-1785. doi: 10.1111/brv.12527. Epub 2019 May 31. Biol Rev Camb Philos Soc. 2019. PMID: 31149781 Review.
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Fischer-Zirnsak B, et al. Am J Hum Genet. 2019 Sep 5;105(3):631-639. doi: 10.1016/j.ajhg.2019.07.002. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353024 Free PMC article.
Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases.
Yamasaki M, Makino T, Khor SS, Toyoda H, Miyagawa T, Liu X, Kuwabara H, Kano Y, Shimada T, Sugiyama T, Nishida H, Sugaya N, Tochigi M, Otowa T, Okazaki Y, Kaiya H, Kawamura Y, Miyashita A, Kuwano R, Kasai K, Tanii H, Sasaki T, Honda M, Tokunaga K. Yamasaki M, et al. BMC Med Genomics. 2020 Mar 29;13(1):55. doi: 10.1186/s12920-020-0699-9. BMC Med Genomics. 2020. PMID: 32223758 Free PMC article.
4,673 results