Robert Wollmann to DNA Mutational Analysis
This is a "connection" page, showing publications Robert Wollmann has written about DNA Mutational Analysis.
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Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia. Clin Genet. 2014 Feb; 85(2):166-71.
Score: 0.100
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Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome. J Med Genet. 2009 Mar; 46(3):203-8.
Score: 0.076
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Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis. Muscle Nerve. 2003 Feb; 27(2):180-7.
Score: 0.050
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Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation. Ophthalmic Genet. 2013 Mar-Jun; 34(1-2):83-6.
Score: 0.024
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Variable phenotypes associated with mutations in DOK7. Muscle Nerve. 2008 Apr; 37(4):448-56.
Score: 0.018
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Focal caspase activation underlies the endplate myopathy in slow-channel syndrome. Ann Neurol. 2004 Mar; 55(3):347-52.
Score: 0.013
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A family with seizures and minor features of tuberous sclerosis and a novel TSC2 mutation. Neurology. 2003 Aug 12; 61(3):409-12.
Score: 0.013