Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
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| Title: | Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing. |
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| Authors: | Makhamreh, Mona M.1 (AUTHOR), Shivashankar, Kavya2 (AUTHOR), Rice, Stephanie M.3 (AUTHOR), Wodoslawsky, Sascha4 (AUTHOR), Grant, Christina5 (AUTHOR), McLaren Jr, Rodney3 (AUTHOR), Berger, Seth I.5 (AUTHOR), Al-Kouatly, Huda B.3 (AUTHOR) huda.al-kouatly@jefferson.edu |
| Source: | Orphanet Journal of Rare Diseases. 7/10/2025, Vol. 20 Issue 1, p1-13. 13p. |
| 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: 186533683 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Makhamreh%2C+Mona+M%2E%22">Makhamreh, Mona M.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Shivashankar%2C+Kavya%22">Shivashankar, Kavya</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rice%2C+Stephanie+M%2E%22">Rice, Stephanie M.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wodoslawsky%2C+Sascha%22">Wodoslawsky, Sascha</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Grant%2C+Christina%22">Grant, Christina</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22McLaren+Jr%2C+Rodney%22">McLaren Jr, Rodney</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Berger%2C+Seth+I%2E%22">Berger, Seth I.</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Al-Kouatly%2C+Huda+B%2E%22">Al-Kouatly, Huda B.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<i> huda.al-kouatly@jefferson.edu</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 7/10/2025, Vol. 20 Issue 1, p1-13. 13p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=186533683 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-03851-9 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 13 StartPage: 1 Titles: – TitleFull: Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Makhamreh, Mona M. – PersonEntity: Name: NameFull: Shivashankar, Kavya – PersonEntity: Name: NameFull: Rice, Stephanie M. – PersonEntity: Name: NameFull: Wodoslawsky, Sascha – PersonEntity: Name: NameFull: Grant, Christina – PersonEntity: Name: NameFull: McLaren Jr, Rodney – PersonEntity: Name: NameFull: Berger, Seth I. – PersonEntity: Name: NameFull: Al-Kouatly, Huda B. IsPartOfRelationships: – BibEntity: Dates: – D: 10 M: 07 Text: 7/10/2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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