Search Results - "Al Sinani, Aisha"
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Arabic Automatic Speech Recognition: A Systematic Literature Review
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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A Novel Mutation Causing 17 - β - Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature
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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A Unique Genotype of Pseudohypoaldosteronism Type 1b in a Highly Consanguineous Population
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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Agammaglobulinaemia despite terminal B‐cell differentiation in a patient with a novel LRBA mutation
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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Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia [version 2; peer review: 3 approved, 1 approved with reservations]
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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Inverted Presentation: Anal Bleeding as the Initial Manifestation of Pediatric Inverse Psoriasis: A Case Report
Published in Oman medical journal (2024)Get full text
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Hyperthyroidism Presenting as Jaundice in a Child
Published in Oman medical journal (2023)Get full text
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Use of ambulatory glucose monitoring and analysis of ambulatory glucose profile in clinical practice for diabetes management; a position statement of the Arab Society of Paediatric Endocrinology and diabetes
Published in Diabetes research and clinical practice (01-03-2021)“…•Ambulatory glucose profiles (AGP) facilitate interpretation of CGM data.•In the MENA region, several circumstances complicate glucose monitoring.•E.g., high…”
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Toward Closing the Training and Knowledge Gap in ICT Accessibility and Inclusive Design Harnessing Open Educational Resources
Published in 2022 International Conference on Advanced Learning Technologies (ICALT) (01-07-2022)“…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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A novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia
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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