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Clinical Case Reports|October 21, 2016
Discordant monoamniotic twins with Pena-Shokeir phenotypeSumaiya Adam, Hennie Lombaard, Careni Spencer
South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|February 27, 2016
A clinical and molecular investigation of two South African families with Simpson-Golabi-Behmel syndromeCareni Spencer, Karen Fieggen, Anna Vorster, et al.
American Journal of Medical Genetics. Part A|March 23, 2023
ABL1-related congenital heart defects and skeletal malformations syndrome in a patient from Sub-Saharan Africa: A case report highlighting novel cardiac featuresCareni Spencer, George Comitis, John Lawrenson, et al.
Special Care in Dentistry : Official Publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry|May 26, 2021
Gordon syndrome: Dental implications and a case reportImaan A Roomaney, Jaco Walters, Careni Spencer, et al.
American Journal of Medical Genetics. Part A|March 26, 2018
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in malesCareni Spencer, Hendrik Lombaard, Amy Wise, et al.
Familial Cancer|February 11, 2017
Biallelic BRCA2 mutations in two black South African children with Fanconi anaemiaCandice Feben, Careni Spencer, Anneline Lochan, et al.
Frontiers in Medicine|May 15, 2026
Case Report: Filamin-C (FLNC) as a cause of disease in a large South African family diagnosed with restrictive cardiomyopathyPolycarp Ndibangwi, Kayla Wagenaar, Nakita Laing, et al.
Molecular Genetics & Genomic Medicine|January 29, 2024
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotypeHeather Seymour, Candice Feben, Patracia Nevondwe, et al.
Journal of Community Genetics|October 10, 2023
A feasible molecular diagnostic strategy for rare genetic disorders within resource-constrained environmentsMaria Mabyalwa Mudau, Heather Seymour, Patracia Nevondwe, et al.
Molecular Genetics and Metabolism Reports|April 4, 2024
A novel mitochondrial DNA variant in MT-ND6: m.14430A>C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiencySurita Meldau, Sally Ackermann, Gillian Riordan, et al.
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