JIMD Reports - JIMD Reports - Case and Research Reports, 2011/1
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21
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Published By Springer Berlin Heidelberg

9783642177071, 9783642177088
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scholarly journals Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue

2011 ◽  
pp. 125-129 ◽  
Author(s):  
Aida Font ◽  
Frederic Tort ◽  
Aleix Navarro-Sastre ◽  
Victòria Cusí ◽  
Judit García-Villoria ◽  
...  
Keyword(s):  
Quantitative Analysis ◽  
Muscle Tissue ◽  
Formalin Fixed Paraffin ◽  
Formalin Fixed Paraffin Embedded ◽  
Formalin Fixed

scholarly journals Utility of Rare Disease Registries in Latin America

2011 ◽  
pp. 111-115 ◽  
Author(s):  
Ana Maria Martins ◽  
Marcelo Kerstenezky ◽  
Adriana Linares ◽  
Juan Politei ◽  
Regina Kohan ◽  
...  
Keyword(s):  
Latin America ◽  
Rare Disease ◽  
Disease Registries

scholarly journals Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene

2011 ◽  
pp. 89-96 ◽  
Author(s):  
Waleed Brinjikji ◽  
Jerry W. Swanson ◽  
Carrie Zabel ◽  
Peter J. Dyck ◽  
Jennifer A. Tracy ◽  
...  

scholarly journals Foot Process Effacement with Normal Urinalysis in Classic Fabry Disease

2011 ◽  
pp. 39-42 ◽  
Author(s):  
Takahiro Kanai ◽  
Takanori Yamagata ◽  
Takane Ito ◽  
Jun Odaka ◽  
Takashi Saito ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Foot Process Effacement ◽  
Foot Process

scholarly journals Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation?

2011 ◽  
pp. 65-72 ◽  
Author(s):  
M. B. Bistué Millón ◽  
M. A. Delgado ◽  
N. B. Azar ◽  
N. Guelbert ◽  
L. Sturiale ◽  
...  
Keyword(s):  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation
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