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PubPharm (167)
91
The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy
enthalten in:
Neurology
| 2018
von
Thangarajh, M.
|
Elfring, G.
|
Trifillis, P.
| +103
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92
Retrospective natural history of thymidine kinase 2 deficiency
enthalten in:
Journal of medical genetics
| 2018
von
Garone, C.
|
Taylor, R.
|
Nascimento, A.
| +40
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93
Quantitative muscle MRI to follow up late onset Pompe patients : a prospective study
enthalten in:
Scientific reports
| 2018
von
Figueroa-Bonaparte, S.
|
Llauger, J.
|
Segovia, S.
| +33
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94
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
enthalten in:
Journal of inherited metabolic disease
| 2018
von
Batllori, M.
|
Molero-Luis, M.
|
Ormazabal, A.
| +14
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95
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
enthalten in:
Journal of inherited metabolic disease
| 2018
von
Batllori, M.
|
Molero-Luis, M.
|
Ormazabal, A.
| +14
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96
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
enthalten in:
Journal of inherited metabolic disease
| 2018
von
Batllori, M.
|
Molero-Luis, M.
|
Ormazabal, A.
| +14
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97
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
enthalten in:
Scientific reports
| 2017
von
Vidal, S.
|
Brandi, N.
|
Pacheco, P.
| +109
ErratumIn: Sci Rep. 2021 Sep 7;11(1):18146. - PMID 34493777
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98
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
enthalten in:
Scientific reports
| 2017
von
Sivera, R.
|
Frasquet, M.
|
Lupo, V.
| +29
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99
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
enthalten in:
Neuromuscular disorders : NMD
| 2017
von
Fernández-Marmiesse, A.
|
Carrascosa-Romero, M.
|
Alfaro Ponce, B.
| +8
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100
Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability
enthalten in:
Frontiers in aging neuroscience
| 2017
von
Rodríguez, M.
|
Del Rio Barquero, L.
|
Ortez, C.
| +10
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