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

Year Number of Results
1997 2
1999 2
2000 1
2001 1
2002 1
2006 2
2007 2
2008 1
2009 2
2010 2
2011 2
2012 1
2013 3
2014 2
2015 2
2016 2
2017 2
2018 2
2020 3
2021 0
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35 results
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Page 1
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B. Hengel H, et al. Among authors: ciruna b. Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7. Nat Commun. 2020. PMID: 32001716 Free PMC article.
The NEMP family supports metazoan fertility and nuclear envelope stiffness.
Tsatskis Y, Rosenfeld R, Pearson JD, Boswell C, Qu Y, Kim K, Fabian L, Mohammad A, Wang X, Robson MI, Krchma K, Wu J, Gonçalves J, Hodzic D, Wu S, Potter D, Pelletier L, Dunham WH, Gingras AC, Sun Y, Meng J, Godt D, Schedl T, Ciruna B, Choi K, Perry JRB, Bremner R, Schirmer EC, Brill JA, Jurisicova A, McNeill H. Tsatskis Y, et al. Among authors: ciruna b. Sci Adv. 2020 Aug 28;6(35):eabb4591. doi: 10.1126/sciadv.abb4591. eCollection 2020 Aug. Sci Adv. 2020. PMID: 32923640 Free PMC article.
Anisotropic stress orients remodelling of mammalian limb bud ectoderm.
Lau K, Tao H, Liu H, Wen J, Sturgeon K, Sorfazlian N, Lazic S, Burrows JT, Wong MD, Li D, Deimling S, Ciruna B, Scott I, Simmons C, Henkelman RM, Williams T, Hadjantonakis AK, Fernandez-Gonzalez R, Sun Y, Hopyan S. Lau K, et al. Among authors: ciruna b. Nat Cell Biol. 2015 May;17(5):569-79. doi: 10.1038/ncb3156. Epub 2015 Apr 20. Nat Cell Biol. 2015. PMID: 25893915 Free PMC article.
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