142PPhenotypical and genotypical characterization of a cohort of 196 COL6-RD patients in Europe and Chile.
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| Title: | 142PPhenotypical and genotypical characterization of a cohort of 196 COL6-RD patients in Europe and Chile. |
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| Authors: | Bisciglia, M.1 (AUTHOR), Stojkovic, T.2 (AUTHOR), Metay, C.3 (AUTHOR), Allamand, V.4 (AUTHOR), Natera-de Benito, D.5 (AUTHOR), Nascimento, A.5 (AUTHOR), Claeys, K.6 (AUTHOR), Castiglioni, C.7 (AUTHOR), Suarez, B.7 (AUTHOR), Vissing, J.8 (AUTHOR), De Paepe, B.9 (AUTHOR), De Bleecker, J.9 (AUTHOR), Lieveke, A.10 (AUTHOR), Butterfield, R.11 (AUTHOR), Deconinck, N.9,12 (AUTHOR) |
| Source: | Neuromuscular Disorders. 2025 Supplement, Vol. 53, pN.PAG-N.PAG. 1p. |
| Database: | Academic Search Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 193863128 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=asn&AN=193863128 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.nmd.2025.105689 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 1 StartPage: N.PAG Titles: – TitleFull: 142PPhenotypical and genotypical characterization of a cohort of 196 COL6-RD patients in Europe and Chile. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bisciglia, M. – PersonEntity: Name: NameFull: Stojkovic, T. – PersonEntity: Name: NameFull: Metay, C. – PersonEntity: Name: NameFull: Allamand, V. – PersonEntity: Name: NameFull: Natera-de Benito, D. – PersonEntity: Name: NameFull: Nascimento, A. – PersonEntity: Name: NameFull: Claeys, K. – PersonEntity: Name: NameFull: Castiglioni, C. – PersonEntity: Name: NameFull: Suarez, B. – PersonEntity: Name: NameFull: Vissing, J. – PersonEntity: Name: NameFull: De Paepe, B. – PersonEntity: Name: NameFull: De Bleecker, J. – PersonEntity: Name: NameFull: Lieveke, A. – PersonEntity: Name: NameFull: Butterfield, R. – PersonEntity: Name: NameFull: Deconinck, N. IsPartOfRelationships: – BibEntity: Dates: – D: 02 M: 09 Text: 2025 Supplement Type: published Y: 2025 Identifiers: – Type: issn-print Value: 09608966 Numbering: – Type: volume Value: 53 Titles: – TitleFull: Neuromuscular Disorders Type: main |
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