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Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
Neuromuscul Disord. 2005 Nov;15(11):764-7. doi: 10.1016/j.nmd.2005.08.001. Epub 2005 Sep 29.
Neuromuscul Disord. 2005.
PMID: 16198564
Quantitative multiplex real-time PCR for detection of PLP1 gene duplications in Pelizaeus-Merzbacher patients.
Mikesová E, Baránková L, Sakmaryová I, Tatarková I, Seeman P.
Mikesová E, et al.
Genet Test. 2006 Fall;10(3):215-20. doi: 10.1089/gte.2006.10.215.
Genet Test. 2006.
PMID: 17020474
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[Turner syndrome: overview of problems, present status, proposals for care and a protocol for monitoring in childhood, adolescence and adulthood].
Snajderová M, Heresová J, Mardesić T, Krenek M, Horejsí J, Kalvachová B, Popelová J, Mikesová E, Wohlová G, Feber J, Gerzová J, Hrobonová V, Teslík L, Zounarová M, Vejvalková S.
Snajderová M, et al. Among authors: mikesova e.
Cas Lek Cesk. 2001 Aug 30;140(17):533-7.
Cas Lek Cesk. 2001.
PMID: 11702479
Czech.
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