Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome.
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| Title: | Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome. |
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| Authors: | Bahadoran, Ensiyeh1 (AUTHOR), Ramezani, Mehrzad2 (AUTHOR), Moghbelinejad, Sahar1 (AUTHOR) smoghbelinejad@qums.ac.ir |
| Source: | Egyptian Journal of Medical Human Genetics. 8/2/2025, Vol. 26 Issue 1, p1-6. 6p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 187119617 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Bahadoran%2C+Ensiyeh%22">Bahadoran, Ensiyeh</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ramezani%2C+Mehrzad%22">Ramezani, Mehrzad</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Moghbelinejad%2C+Sahar%22">Moghbelinejad, Sahar</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> smoghbelinejad@qums.ac.ir</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Egyptian+Journal+of+Medical+Human+Genetics%22">Egyptian Journal of Medical Human Genetics</searchLink>. 8/2/2025, Vol. 26 Issue 1, p1-6. 6p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=187119617 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s43042-025-00761-0 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 6 StartPage: 1 Titles: – TitleFull: Homozygous HPS1 variant in an Iranian sibling pair with Hermansky–Pudlak syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bahadoran, Ensiyeh – PersonEntity: Name: NameFull: Ramezani, Mehrzad – PersonEntity: Name: NameFull: Moghbelinejad, Sahar IsPartOfRelationships: – BibEntity: Dates: – D: 02 M: 08 Text: 8/2/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 11108630 Numbering: – Type: volume Value: 26 – Type: issue Value: 1 Titles: – TitleFull: Egyptian Journal of Medical Human Genetics Type: main |
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