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The Journal of Clinical Endocrinology and Metabolism
|
March 22, 2017
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects
Willy Morelle, Sven Potelle, Peter Witters, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 16, 2006
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II
François Foulquier, Eliza Vasile, Els Schollen, et al.
Journal of Clinical Laboratory Analysis
|
March 10, 2017
Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α<sup>3.7</sup> triplication in congolese patients than in worldwide series
Tite Minga Mikobi, Prosper Tshilobo Lukusa, Michel Ntetani Aloni, et al.
Prenatal Diagnosis
|
December 23, 2004
Post-zygotic origin of isochromosome 12p
Thomy J L de Ravel, Kathelijn Keymolen, Elvire van Assche, et al.
Hematology (Amsterdam, Netherlands)
|
April 4, 2023
Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa
Gloire Mbayabo, Mamy Ngole, Paul Kabuyi Lumbala, et al.
Ejhaem
|
August 21, 2023
Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa
Paul Lumbala Kabuyi, Gloire Mbayabo, Mamy Ngole, et al.
Human Mutation
|
May 10, 2005
Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories
Els Schollen, Elisabeth Dequeker, Shirley McQuaid, et al.
Plos One
|
December 16, 2022
Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa
Paul Kabuyi Lumbala, Gloire Mbayabo, Mamy Nzita Ngole, et al.
Journal of Clinical Laboratory Analysis
|
March 24, 2017
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia
Tite Minga Mikobi, Prosper Tshilobo Lukusa, Michel Ntetani Aloni, et al.
American Journal of Human Genetics
|
April 17, 2007
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway
Claire E Hart, Valerie Race, Younes Achouri, et al.
Page
of 20
Search research articles
Search
Showing results (121-130 of 199) with videos related to
Sort By:
Page
of 20
The Journal of Clinical Endocrinology and Metabolism
|
March 22, 2017
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects
Willy Morelle, Sven Potelle, Peter Witters, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
March 16, 2006
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II
François Foulquier, Eliza Vasile, Els Schollen, et al.
Journal of Clinical Laboratory Analysis
|
March 10, 2017
Association between sickle cell anemia and alpha thalassemia reveals a high prevalence of the α<sup>3.7</sup> triplication in congolese patients than in worldwide series
Tite Minga Mikobi, Prosper Tshilobo Lukusa, Michel Ntetani Aloni, et al.
Prenatal Diagnosis
|
December 23, 2004
Post-zygotic origin of isochromosome 12p
Thomy J L de Ravel, Kathelijn Keymolen, Elvire van Assche, et al.
Hematology (Amsterdam, Netherlands)
|
April 4, 2023
Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa
Gloire Mbayabo, Mamy Ngole, Paul Kabuyi Lumbala, et al.
Ejhaem
|
August 21, 2023
Hydroxyurea treatment for adult sickle cell anemia patients in Kinshasa
Paul Lumbala Kabuyi, Gloire Mbayabo, Mamy Ngole, et al.
Human Mutation
|
May 10, 2005
Diagnostic DHPLC Quality Assurance (DDQA): a collaborative approach to the generation of validated and standardized methods for DHPLC-based mutation screening in clinical genetics laboratories
Els Schollen, Elisabeth Dequeker, Shirley McQuaid, et al.
Plos One
|
December 16, 2022
Clinical and laboratory characterization of adult sickle cell anemia patients in Kinshasa
Paul Kabuyi Lumbala, Gloire Mbayabo, Mamy Nzita Ngole, et al.
Journal of Clinical Laboratory Analysis
|
March 24, 2017
Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia
Tite Minga Mikobi, Prosper Tshilobo Lukusa, Michel Ntetani Aloni, et al.
American Journal of Human Genetics
|
April 17, 2007
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway
Claire E Hart, Valerie Race, Younes Achouri, et al.
Page
of 20