Search Results - "Mardawi, Elham Al"
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Molecular autopsy in maternal–fetal medicine
Published in Genetics in medicine (01-04-2018)“…Purpose The application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe…”
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Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families
Published in Genome Biology (03-06-2015)“…Identifying genetic variants that lead to discernible phenotypes is the core of Mendelian genetics. An approach that considers embryonic lethality as a bona…”
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Mutations in TMEM231 cause Meckel-Gruber syndrome
Published in Journal of medical genetics (01-03-2013)“…Meckel-Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality, occipital encephalocele, polydactyly, and…”
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Misoprostol-Induced Fever and Unnecessary Antibiotic Prescribing: A Retrospective Study
Published in Infectious diseases and therapy (01-09-2023)“…Introduction Misoprostol is widely used for medication abortion and postpartum hemorrhage. However, it has been associated with the adverse effect of fever,…”
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Identification of a novel MKS locus defined by TMEM107 mutation
Published in Human molecular genetics (15-09-2015)“…Meckel-Gruber syndrome (MKS) is a perinatally lethal disorder characterized by the triad of occipital encephalocele, polydactyly and polycystic kidneys…”
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The ethics of lethal congenital malformations. Is palliative therapy possible?
Published in Journal of clinical neonatology (01-10-2019)“…Aim: This study aims to show that palliative care can be offered to babies born with lethal malformations according to the Islamic Code of Ethics, which takes…”
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Genetic, chromosomal, and syndromic causes of neural tube defects
Published in Saudi medical journal (01-12-2014)“…To ascertain the incidence, and describe the various forms of neural tube defects (NTDs) due to genetic, chromosomal, and syndromic causes. We carried out a…”
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