FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
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| Title: | FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6. |
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| Authors: | Watts LM; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7HE, UK., Bunyan DJ; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury SP2 8BJ, UK., Giacopuzzi E; Human Technopole, Milan 20157, Italy., Walker S; Genomics England, London E14 5AB, UK., Gazdagh G; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton SO16 5YA, UK., Thomas NS; Wessex Genomics Laboratory Service, Salisbury District Hospital, Salisbury SP2 8BJ, UK., Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 3BZ, UK., Childs AM; Paediatric Neuromuscular Disease Unit, Leeds Teaching Hospitals Trust, Leeds LS1 3EX, UK., Forsyth J; West Midlands Regional Genetics Laboratory, Central and South Genomic Laboratory Hub, Birmingham B15 2TG, UK., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK., Khan S; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital, Birmingham B15 2TG, UK., Willis TA; Muscle Team, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Oswestry, Shropshire SY10 7AG, UK., Taylor JC; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Pagnamenta AT; Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK.; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter EX2 5DW, UK. |
| Source: | Brain communications [Brain Commun] 2024 Sep 25; Vol. 6 (5), pp. fcae330. Date of Electronic Publication: 2024 Sep 25 (Print Publication: 2024). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2632-1297 |
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| DOI: | 10.1093/braincomms/fcae330 |
