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PubPharm (127)
71
Quantitative fluorescence-polymerase chain reaction assay for the detection of the duplication of the Charcot Marie Tooth disease type 1A critical region
enthalten in:
Genetic testing and molecular biomarkers
| 2010
von
De Toffol, S.
|
Bellone, E.
|
Dulcetti, F.
| +7
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72
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype
enthalten in:
Neurological sciences
| 2010
von
Grandis, M.
|
Gulli, R.
|
Cassandrini, D.
| +11
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73
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype
enthalten in:
Neurological sciences
| 2010
von
Grandis, M.
|
Gulli, R.
|
Cassandrini, D.
| +11
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74
The spectrum of GNE mutations: allelic heterogeneity for a common phenotype
enthalten in:
Neurological sciences
| 2010
von
Grandis, M.
|
Gulli, R.
|
Cassandrini, D.
| +11
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75
Enlarging clinical spectrum of FALS with TARDBP gene mutations : S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling
enthalten in:
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
| 2010
von
Origone, P.
|
Caponnetto, C.
|
Bandettini Di Poggio, M.
| +5
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76
Severe neuropathy after diphtheria-tetanus-pertussis vaccination in a child carrying a novel frame-shift mutation in the small heat-shock protein 27 gene
enthalten in:
Journal of child neurology
| 2010
von
Mandich, P.
|
Grandis, M.
|
Varese, A.
| +10
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77
A Novel Mutation in Type II Methemoglobinemia
enthalten in:
Journal of child neurology
| 2010
von
Mandich, P.
|
Grandis, M.
|
Varese, A.
| +10
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78
Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling
enthalten in:
Amyotrophic lateral sclerosis and other motor neuron disorders
| 2010
von
Origone, P.
|
Caponnetto, C.
|
Bandettini Di Poggio, M.
| +5
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79
Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies
enthalten in:
European journal of human genetics : EJHG
| 2009
von
Mandich, P.
|
Fossa, P.
|
Capponi, S.
| +7
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80
Two families with novel PMP22 point mutations : genotype-phenotype correlation
enthalten in:
Journal of the peripheral nervous system : JPNS
| 2009
von
Pisciotta, C.
|
Manganelli, F.
|
Iodice, R.
| +5
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neuropathy
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DNA-Binding Proteins
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