Search Results - "Al Sinani, Aisha"

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  1. 1

    Arabic Automatic Speech Recognition: A Systematic Literature Review by Dhouib, Amira, Othman, Achraf, El Ghoul, Oussama, Khribi, Mohamed Koutheair, Al Sinani, Aisha

    Published in Applied sciences (01-09-2022)
    “…Automatic Speech Recognition (ASR), also known as Speech-To-Text (STT) or computer speech recognition, has been an active field of research recently. This…”
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    Journal Article
  2. 2

    A Novel Mutation Causing 17 - β - Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature by Mula-Abed , Waad-Allah S, Nahavandi , Nahid, Al-Kusaibi , Ghariba, Al-Azkawi , Hanan, Al-Kindi , Manal, Al-Sinani , Aisha

    Published in Oman medical journal (01-03-2015)
    “…This is the first case report in Oman and the Gulf region of a 17-β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency with a novel mutation in the…”
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    Journal Article
  3. 3

    A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population by Alzahrani, Ali S, Alswailem, Meshael, Abbas, Bassam Bin, Qasem, Ebtesam, Alsagheir, Afaf, Al Shidhani, Azza, Al Sinani, Aisha, Al Badi, Maryam, Al-Maqbali, Ali, Al Shawi, Manal, Albunyan, Abdulhameed, Bin Nafisah, Abdulghani, Shi, Yufei

    Published in Journal of the Endocrine Society (01-08-2021)
    “…Abstract Context Pseudohypoaldosteronism (PHA) is a condition in which serum aldosterone level is normal or elevated but its action is deficient. Objective…”
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    Journal Article
  4. 4

    Agammaglobulinaemia despite terminal B‐cell differentiation in a patient with a novel LRBA mutation by Al Sukaiti, Nashat, AbdelRahman, Khwater, AlShekaili, Jalila, Al Oraimi, Sumaya, Al Sinani, Aisha, Al Rahbi, Nasser, Cho, Vicky, Field, Matt, Cook, Matthew C

    Published in Clinical & translational immunology (26-05-2017)
    “…Mutations in lipopolysaccharide‐responsive vesicle trafficking, beach and anchor‐containing protein (LRBA) cause immune deficiency and inflammation. Here, we…”
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    Journal Article
  5. 5

    Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia [version 2; peer review: 3 approved, 1 approved with reservations] by Willows, Jamie, Al Badi, Maryam, Richardson, Chloe, Al Sinani, Aisha, Edwards, Noel, Rice, Sarah, Sayer, John A

    Published in F1000 research (2019)
    “…Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised.  Affected patients can present with severe symptoms of hypomagnesaemia, such…”
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    Journal Article
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    Toward Closing the Training and Knowledge Gap in ICT Accessibility and Inclusive Design Harnessing Open Educational Resources by Khribi, Mohamed Koutheair, Othman, Achraf, Al-Sinani, Aisha

    “…Information and Communication Technology ICT is increasingly becoming a cornerstone of both work and daily lives for many people. Everyone should then be able…”
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    Conference Proceeding
  10. 10

    A novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia by Baqir, Zaineb S, Al-Lawati, Tawfiq T, Al Hussaini, Saniya O, Al-Sinani, Aisha, Al-Said, Khoula, Al-Rashdi, Ismail

    Published in Paediatrics and international child health (01-08-2012)
    “…Leprechaunism is a rare autosomal recessive disorder which is usually fatal in early infancy or childhood. There is a paucity of genetic data on leprechaunism…”
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    Journal Article
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