Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita.
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| Title: | Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita. |
|---|---|
| Authors: | Nematollahi, Shahrzad1,2, shahrzad.nematollahi@mail.mcgill.ca, Hamdy, Reggie C.3,4, van Bosse, Harold5, Li, Joyce3, Blanshay‐Goldberg, Daniel3, de Vries, Johanna I. P.6, Dieterich, Klaus7, Filges, Isabel8, Bedard, Tanya9, Haendel, Melissa10, Torres, Monica Munoz10, Robinson, Peter N.11, Dahan‐Oliel, Noémi1,2 |
| Source: | American Journal of Medical Genetics. Part A; Aug2025, Vol. 197 Issue 8, p1-16, 16p |
| Database: | Applied Science & Technology Source |
| FullText | Text: Availability: 0 |
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| Header | DbId: aci DbLabel: Applied Science & Technology Source An: 186371143 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=186371143 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.64067 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 16 StartPage: 1 Titles: – TitleFull: Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Nematollahi, Shahrzad – PersonEntity: Name: NameFull: Hamdy, Reggie C. – PersonEntity: Name: NameFull: van Bosse, Harold – PersonEntity: Name: NameFull: Li, Joyce – PersonEntity: Name: NameFull: Blanshay‐Goldberg, Daniel – PersonEntity: Name: NameFull: de Vries, Johanna I. P. – PersonEntity: Name: NameFull: Dieterich, Klaus – PersonEntity: Name: NameFull: Filges, Isabel – PersonEntity: Name: NameFull: Bedard, Tanya – PersonEntity: Name: NameFull: Haendel, Melissa – PersonEntity: Name: NameFull: Torres, Monica Munoz – PersonEntity: Name: NameFull: Robinson, Peter N. – PersonEntity: Name: NameFull: Dahan‐Oliel, Noémi IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: Aug2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 15524825 Numbering: – Type: volume Value: 197 – Type: issue Value: 8 Titles: – TitleFull: American Journal of Medical Genetics. Part A Type: main |
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