Diego Miguel

The germline mutational landscape of BRCA1 and BRCA2 in Brazil

Edenir Inêz Palmero, Dirce Maria Carraro, Bárbara Alemar et al. · Scientific Reports · 2018 · 90 citations · Full text

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi‐Fakhari, Julian Teinert, Robert Behne et al. · Brain · 2019 · 74 citations · Full text

Analysis of <i> <scp> <i>LMNB</i> </scp> 1 </i> Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele‐Specific Expression

Elisa Giorgio, Harshvardhan Rolyan, Laura E. Kropp et al. · Human Mutation · 2013 · 40 citations · Full text

Duplication Mechanisms, Genetics, Pathology +16

New quantitative electrochemiluminescence method (ECLIA) for interleukin-6 (IL-6) measurement

Belén Prieto García, Diego Miguel, Marta Costa et al. · Clinical Chemistry and Laboratory Medicine (CCLM) · 2010 · 28 citations · Full text

Immunohematology, Engineering, Cord Blood Plasma +19

Cord blood plasma reference intervals for potential sepsis markers: Pro-adrenomedullin, pro-endothelin, and pro-atrial natriuretic peptide

Diego Miguel, Belén Prieto García, Marta Costa et al. · Clinical Biochemistry · 2011 · 27 citations · Full text

Cardiovascular Disease, Inflammatory Marker, Sepsis +9