Search Results - "Abanemai, Mohammed"
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Clinical and laboratory features of biliary atresia and patterns of management practices: Saudi national study (2000-2018)
Published in Saudi journal of gastroenterology (01-03-2024)“…We utilized the data from the Saudi national biliary atresia (BA) study (2000-2018) to describe the clinical, biochemical, imaging, and histopathological…”
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Predictors of biliary atresia outcome: Saudi National Study (2000 - 2018)
Published in Saudi journal of gastroenterology (01-09-2023)“…Outcomes in biliary atresia (BA) have been well-documented in large national cohorts from Europe, North America, and East Asia. Understanding the challenges…”
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The Epidemiology and Outcome of Biliary Atresia: Saudi Arabian National Study (2000–2018)
Published in Frontiers in pediatrics (18-07-2022)“…Background The epidemiology and outcomes of biliary atresia (BA) have been well-documented in national cohorts from two main ethnicities, namely, the Asian…”
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Published in American journal of human genetics (06-06-2019)“…We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of…”
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PLACK syndrome is potentially treatable with intralipids
Published in Clinical genetics (01-04-2021)“…We describe an 11‐year‐old girl with PLACK Syndrome (peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads), who was found to have a…”
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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
Published in Nature communications (29-08-2023)“…Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease patients,…”
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Published in American journal of human genetics (03-10-2019)Get full text
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Predictors of biliary atresia outcome: Saudi National Study (2000 – 2018)
Published in Saudi journal of gastroenterology (01-09-2023)Get full text
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Use of bone densitometry to assess bone disease in aluminum toxicity complicating parentral nutrition: A case report
Published in International journal of pediatrics & adolescent medicine (01-03-2018)“…Aluminum toxicity affecting bone mineral density is a known complication of long-term parentral nutrition. In this report, we describe a similar patient who…”
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