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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Am J Hum Genet. 2018 Mar 1;102(3):505-514. doi: 10.1016/j.ajhg.2018.01.023.
Am J Hum Genet. 2018.
PMID: 29499166
Free PMC article.
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
Ravenscroft G, Pannell S, O'Grady G, Ong R, Ee HC, Faiz F, Marns L, Goel H, Kumarasinghe P, Sollis E, Sivadorai P, Wilson M, Magoffin A, Nightingale S, Freckmann ML, Kirk EP, Sachdev R, Lemberg DA, Delatycki MB, Kamm MA, Basnayake C, Lamont PJ, Amor DJ, Jones K, Schilperoort J, Davis MR, Laing NG.
Ravenscroft G, et al. Among authors: marns l.
Neurogastroenterol Motil. 2018 Sep;30(9):e13371. doi: 10.1111/nmo.13371. Epub 2018 May 21.
Neurogastroenterol Motil. 2018.
PMID: 29781137
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A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes.
Gooding R, Colomer J, King R, Angelicheva D, Marns L, Parman Y, Chandler D, Bertranpetit J, Kalaydjieva L.
Gooding R, et al. Among authors: marns l.
J Med Genet. 2005 Dec;42(12):e69. doi: 10.1136/jmg.2005.034132.
J Med Genet. 2005.
PMID: 16326826
Free PMC article.
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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.
Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L.
Varon R, et al. Among authors: marns l.
Nat Genet. 2003 Oct;35(2):185-9. doi: 10.1038/ng1243. Epub 2003 Sep 21.
Nat Genet. 2003.
PMID: 14517542
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