Browsing by Author "El-Akouri, Karen"
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The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar
Alkhidir, Shaza; El-Akouri, Karen; Al-Dewik, Nader; Khodjet-El-khil, Houssein; Okashah, Sarah; Islam, Nazmul; Ben-Omran, Tawfeg; Al-Shafai, Mashael... more authors ... less authors ( Springer Nature , 2024 , Article)Hearing loss is the most predominant sensory defect occurring in pediatrics, of which, 66% cases are attributed to genetic factors. The prevalence of hereditary hearing loss increases in consanguineous populations, and the ... -
Natural History, with Clinical, Biochemical and Molecular Characterization, of Classical Homocystinuria in the Qatari Population
Al-Dewik, Nader; Ali, Alaa; Mahmoud, Yassmin; Shahbeck, Noora; Ali, Rehab; Mahmoud, Laila; Al-Mureikhi, Mariam; Al-Mesaifri, Fatma; Musa, Sara; El-Akouri, Karen; AlMulla, Mariam; Al Saadi, Reem; Nasrallah, Gheyath; Samara, Muthanna; Abdoh, Ghassan; Al Rifai, Hilal; Häberle, Johannes; Thöny, Beat; Kruger, Warren; Blom, Henk J; Ben-Omran, Tawfeg... more authors ... less authors ( Wiley , 2019 , Article)Classical homocystinuria (HCU) is the most common inborn error of metabolism in Qatar, with an incidence of 1:1800, and is caused by the Qatari founder p.R336C mutation in the CBS gene. This study describes the natural ...