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Investigating the structural impacts of a novel missense variant identified with whole exome sequencing in an Egyptian patient with propionic acidemia.

Autor: Ibrahim AZ; Faculty of Medicine, Ain Shams University, Cairo, Egypt., Thirumal Kumar D; School of BioSciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India., Abunada T; Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha, Qatar., Younes S; Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha, Qatar., George Priya Doss C; School of BioSciences and Technology, Vellore Institute of Technology, Vellore, Tamil Nadu, India., Zaki OK; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Zayed H; Department of Biomedical Sciences, College of Health Sciences, QU Health, Qatar University, Doha, Qatar.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Sep 17; Vol. 25, pp. 100645. Date of Electronic Publication: 2020 Sep 17 (Print Publication: 2020).

Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.

Autor: Zayed H; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar. hatem.zayed@qu.edu.qa., El Khayat H; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams Pediatrics Hospital, Ain-Shams University, Cairo, 11665, Egypt., Tomoum H; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams Pediatrics Hospital, Ain-Shams University, Cairo, 11665, Egypt., Khalifa O; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams Pediatrics Hospital, Ain-Shams University, Cairo, 11665, Egypt., Siddiq E; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams Pediatrics Hospital, Ain-Shams University, Cairo, 11665, Egypt., Mohammad SA; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams Pediatrics Hospital, Ain-Shams University, Cairo, 11665, Egypt., Gamal R; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams Pediatrics Hospital, Ain-Shams University, Cairo, 11665, Egypt., Shi Z; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar., Mosailhy A; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams Pediatrics Hospital, Ain-Shams University, Cairo, 11665, Egypt., Zaki OK; Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain Shams Pediatrics Hospital, Ain-Shams University, Cairo, 11665, Egypt. ozaki@med.asu.edu.eg.

Publikováno v: Metabolic brain disease [Metab Brain Dis] 2019 Aug; Vol. 34 (4), pp. 1231-1241. Date of Electronic Publication: 2019 May 06.

Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.

Autor: Zaki OK; Department of Medical Genetics, Ain Shams Paediatrics Hospital, Cairo, Egypt., Priya Doss C G; Department of Integrative Biology, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu, India., Ali SA; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar., Murad GG; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar., Elashi SA; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar., Ebnou MSA; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar., Kumar D T; Department of Integrative Biology, School of Biosciences and Technology, VIT University, Vellore 632014, Tamil Nadu, India., Khalifa O; Department of Medical Genetics, Ain Shams Paediatrics Hospital, Cairo, Egypt., Gamal R; Department of Medical Genetics, Ain Shams Paediatrics Hospital, Cairo, Egypt., El Abd HSA; Department of Medical Genetics, Ain Shams Paediatrics Hospital, Cairo, Egypt., Nasr BN; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar., Zayed H; Department of Biomedical Sciences, College of Health Sciences, Qatar University, Doha, Qatar.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2017 Aug 15; Vol. 26 (16), pp. 3105-3115.