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. |
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| 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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41288877 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Elaraby+NM%22">Elaraby NM</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Metwally+AM%22">Metwally AM</searchLink>; Community Medicine Research Department/Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt. ammal&#95;mok@yahoo.com.<br /><searchLink fieldCode="AU" term="%22Sayed+SM%22">Sayed SM</searchLink>; Department of Biochemistry and Molecular Biology, Faculty of Pharmacy (Girls), Al-Azhar University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ashaat+NA%22">Ashaat NA</searchLink>; Professor of Human Genetics, and Biotechnology, Ain Shams University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Gamal+M%22">Gamal M</searchLink>; Child Health Department, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Hussen+DF%22">Hussen DF</searchLink>; Human Cytogenetic Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abuelela+S%22">Abuelela S</searchLink>; Clinical Pathology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ramadan+A%22">Ramadan A</searchLink>; Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Kobesiy+MM%22">Kobesiy MM</searchLink>; Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Shaker+MM%22">Shaker MM</searchLink>; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Elgebaly+H%22">Elgebaly H</searchLink>; Professor of Pediatrics, Dean of Faculty of Post Graduate Childhood Studies, Ain Shams University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Elnady+HG%22">Elnady HG</searchLink>; Child Health Department, Medical Research and Clinical Studies Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Gammal+ME%22">Gammal ME</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Ashaat+EA%22">Ashaat EA</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. ea.ashaat@nrc.sci.eg. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101660689%22">Molecular and cellular pediatrics</searchLink> [Mol Cell Pediatr] 2025 Nov 25; Vol. 12 (1), pp. 22. <i>Date of Electronic Publication: </i>2025 Nov 25. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101660689 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2194-7791 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221947791%22">21947791 </searchLink><i>NLM ISO Abbreviation: </i>Mol Cell Pediatr <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41288877 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s40348-025-00203-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 22 Titles: – TitleFull: Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Elaraby NM – PersonEntity: Name: NameFull: Metwally AM – PersonEntity: Name: NameFull: Sayed SM – PersonEntity: Name: NameFull: Ashaat NA – PersonEntity: Name: NameFull: Gamal M – PersonEntity: Name: NameFull: Hussen DF – PersonEntity: Name: NameFull: Abuelela S – PersonEntity: Name: NameFull: Ramadan A – PersonEntity: Name: NameFull: Kobesiy MM – PersonEntity: Name: NameFull: Shaker MM – PersonEntity: Name: NameFull: Elgebaly H – PersonEntity: Name: NameFull: Elnady HG – PersonEntity: Name: NameFull: Gammal ME – PersonEntity: Name: NameFull: Ashaat EA IsPartOfRelationships: – BibEntity: Dates: – D: 25 M: 11 Text: 2025 Nov 25 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 2194-7791 Numbering: – Type: volume Value: 12 – Type: issue Value: 1 Titles: – TitleFull: Molecular and cellular pediatrics Type: main |
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