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

Year Number of Results
2002 5
2003 5
2005 2
2006 2
2007 5
2008 3
2009 6
2010 3
2011 5
2012 4
2013 7
2014 5
2015 3
2016 2
2018 1
2019 1
2020 1
2022 1
2024 0

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51 results

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Page 1
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation.
Ashikov A, Abu Bakar N, Wen XY, Niemeijer M, Rodrigues Pinto Osorio G, Brand-Arzamendi K, Hasadsri L, Hansikova H, Raymond K, Vicogne D, Ondruskova N, Simon MEH, Pfundt R, Timal S, Beumers R, Biot C, Smeets R, Kersten M, Huijben K; CDG group; Linders PTA, van den Bogaart G, van Hijum SAFT, Rodenburg R, van den Heuvel LP, van Spronsen F, Honzik T, Foulquier F, van Scherpenzeel M, Lefeber DJ; CDG group; Mirjam W, Han B, Helen M, Helen M, Peter VH, Jiddeke VK, Diego M, Lars M, Katja BH, Jozef H, Majid A, Kevin C, Johann TWN. Ashikov A, et al. Among authors: kevin c. Hum Mol Genet. 2018 Sep 1;27(17):3029-3045. doi: 10.1093/hmg/ddy213. Hum Mol Genet. 2018. PMID: 29878199
Gamma-hydroxybutyrate poisoning from toy beads.
Gunja N, Doyle E, Carpenter K, Chan OT, Gilmore S, Browne G, Graudins A. Gunja N, et al. Among authors: carpenter k. Med J Aust. 2008 Jan 7;188(1):54-5. doi: 10.5694/j.1326-5377.2008.tb01508.x. Epub 2007 Nov 19. Med J Aust. 2008. PMID: 18021061
An unusual case of neck pain.
Carpenter K, Titus MO. Carpenter K, et al. Pediatr Emerg Care. 2013 May;29(5):644-5. doi: 10.1097/PEC.0b013e31828e9e60. Pediatr Emerg Care. 2013. PMID: 23640143
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Foley AR, et al. Among authors: carpenter k. Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19. Brain. 2014. PMID: 24253200 Free PMC article.
Expanded newborn screening in New South Wales: missed cases.
Estrella J, Wilcken B, Carpenter K, Bhattacharya K, Tchan M, Wiley V. Estrella J, et al. Among authors: carpenter k. J Inherit Metab Dis. 2014 Nov;37(6):881-7. doi: 10.1007/s10545-014-9727-2. Epub 2014 Jun 27. J Inherit Metab Dis. 2014. PMID: 24970580
51 results