Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort.
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| Title: | Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort. |
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| Authors: | Silva A; Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK. Alejandro.Silva-Espinosa@soton.ac.uk.; Grupo de Genética Humana, Facultad de Medicina-Universidad de La Sabana, Chía, Colombia. Alejandro.Silva-Espinosa@soton.ac.uk., Jaramillo Oquendo C; Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK., Bernal JE; Grupo Genoma-Facultad de Medicina, Universidad del Sinú, Cartagena, Colombia., Martinez JC; Grupo de Genética Humana, Facultad de Medicina-Universidad de La Sabana, Chía, Colombia., Collins A; Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK., Briceño I; Grupo de Genética Humana, Facultad de Medicina-Universidad de La Sabana, Chía, Colombia., Benavides E; Grupo Genoma-Facultad de Medicina, Universidad del Sinú, Cartagena, Colombia., López Arrieta Z; Grupo Genoma-Facultad de Medicina, Universidad del Sinú, Cartagena, Colombia., Ennis S; Grupo de Genética Humana, Facultad de Medicina-Universidad de La Sabana, Chía, Colombia. s.ennis@soton.ac.uk. |
| Source: | Journal of human genetics [J Hum Genet] 2026 Jul; Vol. 71 (7), pp. 443-451. Date of Electronic Publication: 2026 Mar 30. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41912658 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Silva+A%22">Silva A</searchLink>; Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK. Alejandro.Silva-Espinosa@soton.ac.uk.; Grupo de Genética Humana, Facultad de Medicina-Universidad de La Sabana, Chía, Colombia. Alejandro.Silva-Espinosa@soton.ac.uk.<br /><searchLink fieldCode="AU" term="%22Jaramillo+Oquendo+C%22">Jaramillo Oquendo C</searchLink>; Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Bernal+JE%22">Bernal JE</searchLink>; Grupo Genoma-Facultad de Medicina, Universidad del Sinú, Cartagena, Colombia.<br /><searchLink fieldCode="AU" term="%22Martinez+JC%22">Martinez JC</searchLink>; Grupo de Genética Humana, Facultad de Medicina-Universidad de La Sabana, Chía, Colombia.<br /><searchLink fieldCode="AU" term="%22Collins+A%22">Collins A</searchLink>; Human Genetics and Genomic Medicine, University of Southampton, Southampton, UK.<br /><searchLink fieldCode="AU" term="%22Briceño+I%22">Briceño I</searchLink>; Grupo de Genética Humana, Facultad de Medicina-Universidad de La Sabana, Chía, Colombia.<br /><searchLink fieldCode="AU" term="%22Benavides+E%22">Benavides E</searchLink>; Grupo Genoma-Facultad de Medicina, Universidad del Sinú, Cartagena, Colombia.<br /><searchLink fieldCode="AU" term="%22López+Arrieta+Z%22">López Arrieta Z</searchLink>; Grupo Genoma-Facultad de Medicina, Universidad del Sinú, Cartagena, Colombia.<br /><searchLink fieldCode="AU" term="%22Ennis+S%22">Ennis S</searchLink>; Grupo de Genética Humana, Facultad de Medicina-Universidad de La Sabana, Chía, Colombia. s.ennis@soton.ac.uk. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2026 Jul; Vol. 71 (7), pp. 443-451. <i>Date of Electronic Publication: </i>2026 Mar 30. – 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="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41912658 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/s10038-026-01466-x Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 443 Titles: – TitleFull: Rare variants in embryonic development and cell signalling genes in syndromic and non-syndromic orofacial clefts: evidence from a Colombian Caribbean cohort. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Silva A – PersonEntity: Name: NameFull: Jaramillo Oquendo C – PersonEntity: Name: NameFull: Bernal JE – PersonEntity: Name: NameFull: Martinez JC – PersonEntity: Name: NameFull: Collins A – PersonEntity: Name: NameFull: Briceño I – PersonEntity: Name: NameFull: Benavides E – PersonEntity: Name: NameFull: López Arrieta Z – PersonEntity: Name: NameFull: Ennis S IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2026 Jul Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1435-232X Numbering: – Type: volume Value: 71 – Type: issue Value: 7 Titles: – TitleFull: Journal of human genetics Type: main |
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