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Koenraad Devriendt

Showing results (111-120 of 190) with videos related to

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American Journal of Medical Genetics. Part A|May 2, 2015
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defectsYaojuan Jia, Jacoba J Louw, Jeroen Breckpot, et al.
Journal of Clinical Laboratory Analysis|July 12, 2022
Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemiaGloire Mbayabo, Paul Lumbala Kabuyi, Mamy Ngole, et al.
Mediterranean Journal of Hematology and Infectious Diseases|January 20, 2025
Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin HaplotypesMamy Ngole, Gloire Mbayabo, Paul Lumbala, et al.
Clinical Case Reports|December 31, 2014
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variabilityGerrye Mubungu, Aimé Lumaka, Rosette Matondo, et al.
Birth Defects Research|July 9, 2020
Agnathia otocephaly: A case from the Katanga CopperbeltTony Kayembe-Kitenge, Vicky Manyong'a Kadiamba, Chiara de Luca, et al.
Clinical Genetics|July 26, 2024
Toward 3D facial analysis for recognizing Mendelian causes of autism spectrum disorderYoeri Sleyp, Harold S Matthews, Michiel Vanneste, et al.
Case Reports in Genetics|January 23, 2015
Meningocele in a congolese female with beckwith-wiedemann phenotypeSébastien Mbuyi-Musanzayi, Toni Lubala Kasole, Aimé Lumaka, et al.
American Journal of Medical Genetics. Part A|June 7, 2022
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencingPrince Makay, Gerrye Mubungu, Aimée Mupuala, et al.
Molecular Genetics & Genomic Medicine|September 9, 2021
Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathyJotte Rodrigues Bento, Candice Feben, Marlies Kempers, et al.
Clinical Dysmorphology|January 14, 2025
Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literaturePrince Makay, Corinne Fasquelle, Gerrye Mubungu, et al.
Pageof 19

Showing results (111-120 of 190) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|May 2, 2015
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defectsYaojuan Jia, Jacoba J Louw, Jeroen Breckpot, et al.
Journal of Clinical Laboratory Analysis|July 12, 2022
Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemiaGloire Mbayabo, Paul Lumbala Kabuyi, Mamy Ngole, et al.
Mediterranean Journal of Hematology and Infectious Diseases|January 20, 2025
Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin HaplotypesMamy Ngole, Gloire Mbayabo, Paul Lumbala, et al.
Clinical Case Reports|December 31, 2014
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variabilityGerrye Mubungu, Aimé Lumaka, Rosette Matondo, et al.
Birth Defects Research|July 9, 2020
Agnathia otocephaly: A case from the Katanga CopperbeltTony Kayembe-Kitenge, Vicky Manyong'a Kadiamba, Chiara de Luca, et al.
Clinical Genetics|July 26, 2024
Toward 3D facial analysis for recognizing Mendelian causes of autism spectrum disorderYoeri Sleyp, Harold S Matthews, Michiel Vanneste, et al.
Case Reports in Genetics|January 23, 2015
Meningocele in a congolese female with beckwith-wiedemann phenotypeSébastien Mbuyi-Musanzayi, Toni Lubala Kasole, Aimé Lumaka, et al.
American Journal of Medical Genetics. Part A|June 7, 2022
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencingPrince Makay, Gerrye Mubungu, Aimée Mupuala, et al.
Molecular Genetics & Genomic Medicine|September 9, 2021
Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathyJotte Rodrigues Bento, Candice Feben, Marlies Kempers, et al.
Clinical Dysmorphology|January 14, 2025
Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literaturePrince Makay, Corinne Fasquelle, Gerrye Mubungu, et al.
Pageof 19