Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.
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| Title: | Novel genetic variants identification and immune profiling in ataxia telangiectasia patients. |
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| Authors: | Jenni R; Laboratory of Biomedical Genomics and Oncogenetics (LR16IPT05), Institut Pasteur de Tunis, University Tunis El Manar, Tunis, 1002, Tunisia., Klaa H; LR18SP04 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, 1007, Tunisia., Chikhaoui A; Laboratory of Biomedical Genomics and Oncogenetics (LR16IPT05), Institut Pasteur de Tunis, University Tunis El Manar, Tunis, 1002, Tunisia., Zayoud K; Laboratory of Biomedical Genomics and Oncogenetics (LR16IPT05), Institut Pasteur de Tunis, University Tunis El Manar, Tunis, 1002, Tunisia., Cochet E; Unit of Pediatric Neurogenetics, Department of Genetics, Trousseau Hospital, APHP.Sorbonne University, Paris, 75012, France., Kraoua I; LR18SP04 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, 1007, Tunisia., Burglen L; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Unit of Pediatric Neurogenetics, Department of Genetics, Trousseau Hospital, APHP. Sorbonne University, Paris, 75012, France., Yacoub-Youssef H; Laboratory of Biomedical Genomics and Oncogenetics (LR16IPT05), Institut Pasteur de Tunis, University Tunis El Manar, Tunis, 1002, Tunisia. houda.yacoub@pasteur.utm.tn. |
| Source: | Journal of translational medicine [J Transl Med] 2026 Feb 19; Vol. 24 (1). Date of Electronic Publication: 2026 Feb 19. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876 (Electronic) Linking ISSN: 14795876 NLM ISO Abbreviation: J Transl Med Subsets: MEDLINE; In Process |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41715124 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel genetic variants identification and immune profiling in ataxia telangiectasia patients. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Jenni+R%22">Jenni R</searchLink>; Laboratory of Biomedical Genomics and Oncogenetics (LR16IPT05), Institut Pasteur de Tunis, University Tunis El Manar, Tunis, 1002, Tunisia.<br /><searchLink fieldCode="AU" term="%22Klaa+H%22">Klaa H</searchLink>; LR18SP04 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, 1007, Tunisia.<br /><searchLink fieldCode="AU" term="%22Chikhaoui+A%22">Chikhaoui A</searchLink>; Laboratory of Biomedical Genomics and Oncogenetics (LR16IPT05), Institut Pasteur de Tunis, University Tunis El Manar, Tunis, 1002, Tunisia.<br /><searchLink fieldCode="AU" term="%22Zayoud+K%22">Zayoud K</searchLink>; Laboratory of Biomedical Genomics and Oncogenetics (LR16IPT05), Institut Pasteur de Tunis, University Tunis El Manar, Tunis, 1002, Tunisia.<br /><searchLink fieldCode="AU" term="%22Cochet+E%22">Cochet E</searchLink>; Unit of Pediatric Neurogenetics, Department of Genetics, Trousseau Hospital, APHP.Sorbonne University, Paris, 75012, France.<br /><searchLink fieldCode="AU" term="%22Kraoua+I%22">Kraoua I</searchLink>; LR18SP04 and Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, Tunis, 1007, Tunisia.<br /><searchLink fieldCode="AU" term="%22Burglen+L%22">Burglen L</searchLink>; Reference Center for Malformations and Congenital Diseases of the Cerebellum and Unit of Pediatric Neurogenetics, Department of Genetics, Trousseau Hospital, APHP. Sorbonne University, Paris, 75012, France.<br /><searchLink fieldCode="AU" term="%22Yacoub-Youssef+H%22">Yacoub-Youssef H</searchLink>; Laboratory of Biomedical Genomics and Oncogenetics (LR16IPT05), Institut Pasteur de Tunis, University Tunis El Manar, Tunis, 1002, Tunisia. houda.yacoub@pasteur.utm.tn. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101190741%22">Journal of translational medicine</searchLink> [J Transl Med] 2026 Feb 19; Vol. 24 (1). <i>Date of Electronic Publication: </i>2026 Feb 19. – 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="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101190741 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-5876 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214795876%22">14795876 </searchLink><i>NLM ISO Abbreviation: </i>J Transl Med <i>Subsets: </i>MEDLINE; In Process |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41715124 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s12967-026-07871-2 Languages: – Code: eng Text: English Titles: – TitleFull: Novel genetic variants identification and immune profiling in ataxia telangiectasia patients. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Jenni R – PersonEntity: Name: NameFull: Klaa H – PersonEntity: Name: NameFull: Chikhaoui A – PersonEntity: Name: NameFull: Zayoud K – PersonEntity: Name: NameFull: Cochet E – PersonEntity: Name: NameFull: Kraoua I – PersonEntity: Name: NameFull: Burglen L – PersonEntity: Name: NameFull: Yacoub-Youssef H IsPartOfRelationships: – BibEntity: Dates: – D: 19 M: 02 Text: 2026 Feb 19 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 1479-5876 Numbering: – Type: volume Value: 24 – Type: issue Value: 1 Titles: – TitleFull: Journal of translational medicine Type: main |
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