Robert Wollmann to Pedigree
This is a "connection" page, showing publications Robert Wollmann has written about Pedigree.
Connection Strength
0.330
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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: 0.097
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Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE. Clin Genet. 2011 Nov; 80(5):444-51.
Score: 0.083
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Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations. Clin Genet. 2007 Jul; 72(1):63-5.
Score: 0.065
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Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering. Muscle Nerve. 2003 Sep; 28(3):293-301.
Score: 0.050
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LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. Hum Genet. 2012 Jul; 131(7):1123-35.
Score: 0.022
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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: 0.012