Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.

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Title: Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants.
Authors: Elaraby NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Metwally AM; Community Medicine Research Department/Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt. ammal_mok@yahoo.com., Sayed SM; Department of Biochemistry and Molecular Biology, Faculty of Pharmacy (Girls), Al-Azhar University, Cairo, Egypt., Ashaat NA; Professor of Human Genetics, and Biotechnology, Ain Shams University, Cairo, Egypt., Gamal M; Child Health Department, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt., Hussen DF; Human Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abuelela S; Clinical Pathology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Ramadan A; Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Kobesiy MM; Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Shaker MM; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Elgebaly H; Professor of Pediatrics, Dean of Faculty of Post Graduate Childhood Studies, Ain Shams University, Cairo, Egypt., Elnady HG; Child Health Department, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt., Gammal ME; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. ea.ashaat@nrc.sci.eg.
Source: Molecular and cellular pediatrics [Mol Cell Pediatr] 2025 Nov 25; Vol. 12 (1), pp. 22. Date of Electronic Publication: 2025 Nov 25.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101660689 Publication Model: Electronic Cited Medium: Print ISSN: 2194-7791 (Print) Linking ISSN: 21947791 NLM ISO Abbreviation: Mol Cell Pediatr Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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ISSN:2194-7791
DOI:10.1186/s40348-025-00203-2