Newborn screening and rapid genomic diagnosis of neuromuscular diseases.

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Title: Newborn screening and rapid genomic diagnosis of neuromuscular diseases.
Authors: Dangouloff T; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege & University of Liege, Liege, Belgium., Lang H; MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK., Benmhammed N; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege & University of Liege, Liege, Belgium., Servais L; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege & University of Liege, Liege, Belgium.; MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2025 Mar; Vol. 12 (2), pp. 157-172. Date of Electronic Publication: 2024 Dec 08.
Publication Type: Journal Article; Review
Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Dangouloff+T%22">Dangouloff T</searchLink>; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege & University of Liege, Liege, Belgium.<br /><searchLink fieldCode="AU" term="%22Lang+H%22">Lang H</searchLink>; MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Benmhammed+N%22">Benmhammed N</searchLink>; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege & University of Liege, Liege, Belgium.<br /><searchLink fieldCode="AU" term="%22Servais+L%22">Servais L</searchLink>; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liege & University of Liege, Liege, Belgium.; MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
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  Data: <searchLink fieldCode="JN" term="%22101649948%22">Journal of neuromuscular diseases</searchLink> [J Neuromuscul Dis] 2025 Mar; Vol. 12 (2), pp. 157-172. <i>Date of Electronic Publication: </i>2024 Dec 08.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IOS+Press%22">IOS Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101649948 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2214-3602 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222143599%22">22143599 </searchLink><i>NLM ISO Abbreviation: </i>J Neuromuscul Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1177/22143602241296286
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      – Code: eng
        Text: English
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        StartPage: 157
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      – TitleFull: Newborn screening and rapid genomic diagnosis of neuromuscular diseases.
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            NameFull: Lang H
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            NameFull: Benmhammed N
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              Text: 2025 Mar
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              Y: 2025
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