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Birth Defects Research
|
August 17, 2019
Holoprosencephaly: A case series from an area with high mining-related pollution
Tony Kayembe-Kitenge, Toni Kasole Lubala, Paul Musa Obadia, et al.
Clinical Chemistry and Laboratory Medicine
|
May 22, 2019
The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium
Jan Van Elslande, Nathalie Brison, Joris R Vermeesch, et al.
American Journal of Human Genetics
|
May 13, 2003
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
Alexandre Irrthum, Koenraad Devriendt, David Chitayat, et al.
European Journal of Medical Genetics
|
August 2, 2023
Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
Toni Kasole Lubala, Tony Kayembe-Kitenge, Gerrye Mubungu, 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.
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.
Genome Medicine
|
March 3, 2010
Collaboratively charting the gene-to-phenotype network of human congenital heart defects
Roland Barriot, Jeroen Breckpot, Bernard Thienpont, 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.
Genome Medicine
|
January 9, 2025
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
Mathilde Geysens, Benjamin Huremagic, Erika Souche, et al.
Orphanet Journal of Rare Diseases
|
June 16, 2022
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group
Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, et al.
Page
of 19
Search research articles
Search
Showing results (91-100 of 190) with videos related to
Sort By:
Page
of 19
Birth Defects Research
|
August 17, 2019
Holoprosencephaly: A case series from an area with high mining-related pollution
Tony Kayembe-Kitenge, Toni Kasole Lubala, Paul Musa Obadia, et al.
Clinical Chemistry and Laboratory Medicine
|
May 22, 2019
The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium
Jan Van Elslande, Nathalie Brison, Joris R Vermeesch, et al.
American Journal of Human Genetics
|
May 13, 2003
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia
Alexandre Irrthum, Koenraad Devriendt, David Chitayat, et al.
European Journal of Medical Genetics
|
August 2, 2023
Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects
Toni Kasole Lubala, Tony Kayembe-Kitenge, Gerrye Mubungu, 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.
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.
Genome Medicine
|
March 3, 2010
Collaboratively charting the gene-to-phenotype network of human congenital heart defects
Roland Barriot, Jeroen Breckpot, Bernard Thienpont, 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.
Genome Medicine
|
January 9, 2025
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders
Mathilde Geysens, Benjamin Huremagic, Erika Souche, et al.
Orphanet Journal of Rare Diseases
|
June 16, 2022
Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group
Aimé Lumaka, Nadia Carstens, Koenraad Devriendt, et al.
Page
of 19