Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.
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| Title: | Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature. |
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| Authors: | Merdler-Rabinowicz R; Pediatric Department A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Prat D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel., Pode-Shakked B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Abel G; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Chorin O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Somech R; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel., Raas-Rothschild A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. Electronic address: Annick.Rothschild@sheba.health.gov.il. |
| Source: | European journal of medical genetics [Eur J Med Genet] 2021 Jun; Vol. 64 (6), pp. 104210. Date of Electronic Publication: 2021 Mar 30. |
| Publication Type: | Case Reports; Journal Article; Systematic Review |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 33794347 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Merdler-Rabinowicz+R%22">Merdler-Rabinowicz R</searchLink>; Pediatric Department A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Prat+D%22">Prat D</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Pode-Shakked+B%22">Pode-Shakked B</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Abel+G%22">Abel G</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Chorin+O%22">Chorin O</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Somech+R%22">Somech R</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel.<br /><searchLink fieldCode="AU" term="%22Raas-Rothschild+A%22">Raas-Rothschild A</searchLink>; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. Electronic address: Annick.Rothschild@sheba.health.gov.il. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2021 Jun; Vol. 64 (6), pp. 104210. <i>Date of Electronic Publication: </i>2021 Mar 30. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Systematic Review – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=33794347 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ejmg.2021.104210 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 104210 Titles: – TitleFull: Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Merdler-Rabinowicz R – PersonEntity: Name: NameFull: Prat D – PersonEntity: Name: NameFull: Pode-Shakked B – PersonEntity: Name: NameFull: Abel G – PersonEntity: Name: NameFull: Chorin O – PersonEntity: Name: NameFull: Somech R – PersonEntity: Name: NameFull: Raas-Rothschild A IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2021 Jun Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1878-0849 Numbering: – Type: volume Value: 64 – Type: issue Value: 6 Titles: – TitleFull: European journal of medical genetics Type: main |
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