Emmanuel Kanavakis
Publications by Year
Research Areas
Hemoglobinopathies and Related Disorders, Prenatal Screening and Diagnostics, Iron Metabolism and Disorders, Genomic variations and chromosomal abnormalities, Erythrocyte Function and Pathophysiology
Most-Cited Works
- → Variation in a Repeat Sequence Determines Whether a Common Variant of the Cystic Fibrosis Transmembrane Conductance Regulator Gene Is Pathogenic or Benign(2004)250 cited
- → Alternating hemiplegia of childhood or familial hemiplegic migraine?: A novel ATP1A2 mutation(2004)168 cited
- → Androgen insensitivity syndrome: clinical features and molecular defects(2008)164 cited
- → Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach(2011)160 cited
- → CFTR gene mutations - including three novel nucleotide substitutions - and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease(2001)139 cited
- → Preimplantation genetic diagnosis in clinical practice(2002)117 cited
- → Dramatic Elevations of Interleukin-6 and Acute-Phase Reactants in Athletes Participating in the Ultradistance Foot Race Spartathlon: Severe Systemic Inflammation and Lipid and Lipoprotein Changes in Protracted Exercise(2005)114 cited
- → Assessment of oxidative stress in patients with sickle cell disease: The glutathione system and the oxidant–antioxidant status(2011)112 cited
- → Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience(2000)102 cited
- → Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of β-thalassaemia major: Case report(2005)102 cited