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South African Medical Journal = Suid-Afrikaanse Tydskrif Vir Geneeskunde|December 5, 2013
Thyroid dysfunction in a cohort of South African children with Down syndromeShahida Moosa, David G Segal, Arnold L Christianson, et al.
BMJ Case Reports|March 13, 2023
Adar-associated Aicardi Goutières syndrome in a child with bilateral striatal necrosis and recurrent episodes of transaminitisRonald van Toorn, Magriet van Niekerk, Shahida Moosa, et al.
European Journal of Human Genetics : EJHG|June 25, 2025
The utility of next generation sequencing targeted multigene panels in the Adult Neurogenetic Clinic at Tygerberg Hospital, South AfricaCumine Van Tonder, Mardelle Schoeman, Jonathan Carr, et al.
American Journal of Medical Genetics. Part A|January 22, 2016
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrumShahida Moosa, Maria Gabriela Obregon, Janine Altmüller, et al.
American Journal of Medical Genetics. Part A|October 13, 2021
Genomic basis of syndromic short stature in an Algerian patient cohortShahida Moosa, Farida Chentli, Janine Altmüller, et al.
Seizure|September 9, 2022
Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective studyFarida Essajee, Michael Urban, Liani Smit, et al.
SA Journal of Radiology|June 24, 2022
A rare case of tuberous sclerosis complex-associated renal cell carcinomaHumphrey Mapuranga, Bianca Douglas-Jones, Danelo du Plessis, et al.
American Journal of Medical Genetics. Part A|October 19, 2016
Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicismShahida Moosa, Helena Böhrer-Rabel, Janine Altmüller, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndromeShahida Moosa, Janine Altmüller, Troels Lyngbye, et al.
Saudi Medical Journal|April 20, 2025
Advancing genetic counselling in Southern Africa: Unveiling opportunities for inclusive healthcare and genomic education for AngolaMaria Chimpolo, Shahida Moosa, Catherine Lynn T Silao, et al.
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