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Human Mutation
|
December 25, 2007
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1
François-Yves Dupradeau, Serge Pissard, Marie-Pierre Coulhon, et al.
American Journal of Hematology
|
December 6, 2011
Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants
Kamran Moradkhani, Chadia Mekki, Michel Bahuau, et al.
Annals of Hematology
|
May 11, 2026
Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency
Oliver Sakalian, Yoann Huguenin, Serge Pissard, et al.
European Journal of Human Genetics : EJHG
|
December 4, 2014
Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))
Nina Marchi, Serge Pissard, Manuel Cliquennois, et al.
British Journal of Haematology
|
June 24, 2017
Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study
Corinne Vasseur, Elisa Domingues-Hamdi, Katia Ledudal, et al.
Antiviral Therapy
|
March 27, 2009
Perinatal zidovudine prophylaxis in HIV type-1-infected pregnant women with thalassaemia carriage in Thailand
Nelly Briand, Sakorn Pornprasert, Nicole Ngo-Giang-Huong, et al.
Annales De Biologie Clinique
|
July 24, 2010
[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies]
Patricia Aguilar-Martinez, Catherine Badens, Nathalie Bonello-Palot, et al.
Hemoglobin
|
September 15, 2016
Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin
Cornelis L Harteveld, Serge Pissard, Anna M H Korver, et al.
Hemoglobin
|
March 17, 2007
Rapid detection of beta-Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control
Gehan Hussein, Manal Fawzy, Taher El Serafi, et al.
Clinical Chemistry and Laboratory Medicine
|
May 9, 2007
Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions
Helene Puehringer, Hossein Najmabadi, Hai-Yang Law, et al.
Page
of 7
Search research articles
Search
Showing results (41-50 of 63) with videos related to
Sort By:
Page
of 7
Human Mutation
|
December 25, 2007
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1
François-Yves Dupradeau, Serge Pissard, Marie-Pierre Coulhon, et al.
American Journal of Hematology
|
December 6, 2011
Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants
Kamran Moradkhani, Chadia Mekki, Michel Bahuau, et al.
Annals of Hematology
|
May 11, 2026
Expanding the PKLR mutation spectrum: discovery of two novel variants in two pediatric cases of pyruvate kinase deficiency
Oliver Sakalian, Yoann Huguenin, Serge Pissard, et al.
European Journal of Human Genetics : EJHG
|
December 4, 2014
Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA))
Nina Marchi, Serge Pissard, Manuel Cliquennois, et al.
British Journal of Haematology
|
June 24, 2017
Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study
Corinne Vasseur, Elisa Domingues-Hamdi, Katia Ledudal, et al.
Antiviral Therapy
|
March 27, 2009
Perinatal zidovudine prophylaxis in HIV type-1-infected pregnant women with thalassaemia carriage in Thailand
Nelly Briand, Sakorn Pornprasert, Nicole Ngo-Giang-Huong, et al.
Annales De Biologie Clinique
|
July 24, 2010
[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies]
Patricia Aguilar-Martinez, Catherine Badens, Nathalie Bonello-Palot, et al.
Hemoglobin
|
September 15, 2016
Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin
Cornelis L Harteveld, Serge Pissard, Anna M H Korver, et al.
Hemoglobin
|
March 17, 2007
Rapid detection of beta-Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control
Gehan Hussein, Manal Fawzy, Taher El Serafi, et al.
Clinical Chemistry and Laboratory Medicine
|
May 9, 2007
Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions
Helene Puehringer, Hossein Najmabadi, Hai-Yang Law, et al.
Page
of 7