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Philippe Joly

Showing results (31-40 of 148) with videos related to

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Clinica Chimica Acta; International Journal of Clinical Chemistry|July 6, 2013
UGT1A1 (TA)n genotyping in sickle-cell disease: high resolution melting (HRM) curve analysis or direct sequencing, what is the best way?Vincent Thomas, Blandine Mazard, Caroline Garcia, et al.
Blood Cells, Molecules & Diseases|August 28, 2014
A late onset sickle cell disease reveals a mosaic segmental uniparental isodisomy of chromosome 11p15Isabelle Vinatier, Xavier Martin, Jean-Marc Costa, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 3, 2013
Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotypePhilippe Joly, Philippe Lacan, Colette Chapuis-Cellier, et al.
Hemoglobin|July 21, 2010
Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotypePhilippe Joly, Anton Szymanowicz, Marie-Jeanne Neyron, et al.
American Journal of Hematology|March 21, 2012
Genotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patientsPhilippe Joly, Marie-Claude Gagnieu, Claire Bardel, et al.
Clinical Hemorheology and Microcirculation|April 21, 2025
Effect of dalcetrapib, voxelotor and their combination on red blood cell deformability and sickling in sickle cell diseaseClaire Bordat, Elie Nader, Philippe Connes, et al.
Orphanet Journal of Rare Diseases|October 9, 2015
Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous statesPhilippe Joly, Olivier Guillaud, Valérie Hervieu, et al.
Hemoglobin|October 22, 2008
Two new G gamma chain variants: Hb F-Saint-Etienne [G gamma 79(EF3)Asp-->His] and Hb F-Lyon [G gamma 97(FG4)His-->Arg]Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
The Journal of Applied Laboratory Medicine|June 13, 2023
Clinical, Biochemical, and Hematological Presentation of a ß (+) Thalassemia due to the Poly A (T- > C) Mutation (HBB c.*110T > C (rs33978907)) Discovered in a Senegalese FamilyFatou G Tall, Serigne Saliou Mbancké, El Hadji M Ndour, et al.
Scientific Reports|May 3, 2019
Impact of surface-area-to-volume ratio, internal viscosity and membrane viscoelasticity on red blood cell deformability measured in isotonic conditionCéline Renoux, Magalie Faivre, Amel Bessaa, et al.
Pageof 15

Showing results (31-40 of 148) with videos related to

Sort By:
Pageof 15
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 6, 2013
UGT1A1 (TA)n genotyping in sickle-cell disease: high resolution melting (HRM) curve analysis or direct sequencing, what is the best way?Vincent Thomas, Blandine Mazard, Caroline Garcia, et al.
Blood Cells, Molecules & Diseases|August 28, 2014
A late onset sickle cell disease reveals a mosaic segmental uniparental isodisomy of chromosome 11p15Isabelle Vinatier, Xavier Martin, Jean-Marc Costa, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|October 3, 2013
Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotypePhilippe Joly, Philippe Lacan, Colette Chapuis-Cellier, et al.
Hemoglobin|July 21, 2010
Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotypePhilippe Joly, Anton Szymanowicz, Marie-Jeanne Neyron, et al.
American Journal of Hematology|March 21, 2012
Genotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patientsPhilippe Joly, Marie-Claude Gagnieu, Claire Bardel, et al.
Clinical Hemorheology and Microcirculation|April 21, 2025
Effect of dalcetrapib, voxelotor and their combination on red blood cell deformability and sickling in sickle cell diseaseClaire Bordat, Elie Nader, Philippe Connes, et al.
Orphanet Journal of Rare Diseases|October 9, 2015
Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous statesPhilippe Joly, Olivier Guillaud, Valérie Hervieu, et al.
Hemoglobin|October 22, 2008
Two new G gamma chain variants: Hb F-Saint-Etienne [G gamma 79(EF3)Asp-->His] and Hb F-Lyon [G gamma 97(FG4)His-->Arg]Philippe Joly, Philippe Lacan, Caroline Garcia, et al.
The Journal of Applied Laboratory Medicine|June 13, 2023
Clinical, Biochemical, and Hematological Presentation of a ß (+) Thalassemia due to the Poly A (T- > C) Mutation (HBB c.*110T > C (rs33978907)) Discovered in a Senegalese FamilyFatou G Tall, Serigne Saliou Mbancké, El Hadji M Ndour, et al.
Scientific Reports|May 3, 2019
Impact of surface-area-to-volume ratio, internal viscosity and membrane viscoelasticity on red blood cell deformability measured in isotonic conditionCéline Renoux, Magalie Faivre, Amel Bessaa, et al.
Pageof 15