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

Year Number of Results
1985 1
1986 1
1987 1
1988 1
1989 1
1990 1
1992 1
1994 2
1995 2
1996 1
1997 2
1998 2
1999 7
2000 2
2001 1
2002 4
2003 2
2004 4
2005 3
2006 2
2007 5
2008 4
2009 4
2010 3
2011 4
2012 7
2013 7
2014 10
2015 5
2016 6
2017 4
2018 5
2019 3
2020 1
2021 2
2022 1
2024 0

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94 results

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Page 1
Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.
Koehler K, Malik M, Mahmood S, Gießelmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nürnberg G, Thiele H, Altmüller J, Nürnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Brämswig J, Mühlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hübner CA. Koehler K, et al. Among authors: zeharia a. Am J Hum Genet. 2013 Oct 3;93(4):727-34. doi: 10.1016/j.ajhg.2013.08.002. Epub 2013 Sep 12. Am J Hum Genet. 2013. PMID: 24035193 Free PMC article.
Conversion reaction: management by the paediatrician.
Zeharia A, Mukamel M, Carel C, Weitz R, Danziger Y, Mimouni M. Zeharia A, et al. Eur J Pediatr. 1999 Feb;158(2):160-4. doi: 10.1007/s004310051039. Eur J Pediatr. 1999. PMID: 10048616 Review.
Homozygous MED25 mutation implicated in eye-intellectual disability syndrome.
Basel-Vanagaite L, Smirin-Yosef P, Essakow JL, Tzur S, Lagovsky I, Maya I, Pasmanik-Chor M, Yeheskel A, Konen O, Orenstein N, Weisz Hubshman M, Drasinover V, Magal N, Peretz Amit G, Zalzstein Y, Zeharia A, Shohat M, Straussberg R, Monté D, Salmon-Divon M, Behar DM. Basel-Vanagaite L, et al. Among authors: zeharia a. Hum Genet. 2015 Jun;134(6):577-87. doi: 10.1007/s00439-015-1541-x. Epub 2015 Mar 20. Hum Genet. 2015. PMID: 25792360 Clinical Trial.
94 results