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H Michelakakis

Showing results (31-40 of 41) with videos related to

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Biochimica Et Biophysica Acta|December 16, 1996
Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher diseaseH Michelakakis, C Spanou, A Kondyli, et al.
Clinical Genetics|May 25, 2013
Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek islandI Mavridou, M Cozar, S Douzgou, et al.
American Journal of Human Genetics|September 1, 1995
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patientsA Shaag, Y Anikster, E Christensen, et al.
Blood Cells, Molecules & Diseases|September 3, 2005
Elevated plasma chemokine CCL18/PARC in beta-thalassemiaE Dimitriou, M Verhoek, S Altun, et al.
Orphanet Journal of Rare Diseases|December 21, 2022
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1A Dardis, H Michelakakis, P Rozenfeld, et al.
Pharmacogenetics|July 18, 2000
A novel mutation in the flavin-containing monooxygenase 3 gene, FM03, that causes fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopyH C Murphy, C T Dolphin, A Janmohamed, et al.
Journal of Inherited Metabolic Disease|July 14, 2006
Seven cases of Pompe disease from GreeceM Kroos, P Manta, I Mavridou, et al.
European Journal of Neurology|December 10, 2013
Genetic assessment of familial and early-onset Parkinson's disease in a Greek populationM Bozi, D Papadimitriou, R Antonellou, et al.
Molecular Genetics and Metabolism Reports|December 20, 2021
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel <i>TYMP</i> mutationA Paisiou, M Rogalidou, R Pons, et al.
Biochimica Et Biophysica Acta|March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin patternM Mohamed, M Guillard, S B Wortmann, et al.
Pageof 5

Showing results (31-40 of 41) with videos related to

Sort By:
Pageof 5
Biochimica Et Biophysica Acta|December 16, 1996
Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher diseaseH Michelakakis, C Spanou, A Kondyli, et al.
Clinical Genetics|May 25, 2013
Niemann-Pick type C disease: a novel NPC1 mutation segregating in a Greek islandI Mavridou, M Cozar, S Douzgou, et al.
American Journal of Human Genetics|September 1, 1995
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patientsA Shaag, Y Anikster, E Christensen, et al.
Blood Cells, Molecules & Diseases|September 3, 2005
Elevated plasma chemokine CCL18/PARC in beta-thalassemiaE Dimitriou, M Verhoek, S Altun, et al.
Orphanet Journal of Rare Diseases|December 21, 2022
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1A Dardis, H Michelakakis, P Rozenfeld, et al.
Pharmacogenetics|July 18, 2000
A novel mutation in the flavin-containing monooxygenase 3 gene, FM03, that causes fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopyH C Murphy, C T Dolphin, A Janmohamed, et al.
Journal of Inherited Metabolic Disease|July 14, 2006
Seven cases of Pompe disease from GreeceM Kroos, P Manta, I Mavridou, et al.
European Journal of Neurology|December 10, 2013
Genetic assessment of familial and early-onset Parkinson's disease in a Greek populationM Bozi, D Papadimitriou, R Antonellou, et al.
Molecular Genetics and Metabolism Reports|December 20, 2021
Mitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel <i>TYMP</i> mutationA Paisiou, M Rogalidou, R Pons, et al.
Biochimica Et Biophysica Acta|March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin patternM Mohamed, M Guillard, S B Wortmann, et al.
Pageof 5