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Browsing by Author "Popel, Kalinka"

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A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family

Author: Manyisa, Noluthando ; Schrauwen, Isabelle ; de Souza Rios, Leonardo Alves ; Mowla, Shaheen ; Tekendo-Ngongang, Cedrik ; Popel, Kalinka ; Esoh, Kevin ; Bharadwaj, Thashi ; Nouel-Saied, Liz M. ; Acharya, Anushree ; Nasir, Abdul ; Wonkam-Tingang, Edmond ; Kock, Carmen de ; Dandara, Collet ; Leal, Suzanne M. ; Wonkam, Ambroise Date: 06 Nov 2021 Hearing impairment (HI) is a sensory disorder with a prevalence of 0.0055 live births in South Africa. DNA samples from a South African family presenting with progressive, autosomal dominant non-syndromic HI were subjected to whole-exome ... Read more c b
Parental perceptions of the educational needs of children with genetic conditions leading to intellectual disabilities

Author: Cameron-Mackintosh, Sinead Date: 2022 . Read more
Young adults' perceptions of the implications of their hereditary, visual impairment: A Cape Town based study

Author: Popel, Kalinka Date: 2017 In South Africa, approximately 600 000 individuals are visually impaired. Approximately onethird of genetic disorders and syndromes involves the eye, including conditions such as congenital cataracts, glaucoma, albinism, and retinal degenerative ... Read more

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