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Direct-to-consumer genetic testing: to test or not to test, that is the question.
In direct-to-consumer (DTC) genetic testing, laboratory-based genetic services are offered directly to the public without an independent healthcare professional being involved. The committee of theExpand
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Haemophilia: A disease of women as well
Background. While haemophilia is a disease phenotype in males only, it has an effect on females too. In South Africa, there is no documentation on the views and experiences of haemophilia carrierExpand
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Two Trisomy 22 Live Births in One Hospital in 15 Months: Is It as Rare as We Thought?
We report two cases of complete non-mosaic trisomy 22 who were born within 15 months of each other in KwaZulu Natal, South Africa. In an effort to consolidate diagnostic criteria to suspect trisomyExpand
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Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome
Abstract Background The development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in theseExpand