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Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.

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Title: Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
Authors: Sharaf-Eldin WE; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Rafat K; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt., Eissa NR; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Hawaary B; Pediatrics Department, Faculty of Medicine, Aswan University, Aswan, Egypt., Gaboon NEA; Medical Genetics Centre, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt., Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, CA, 92093, USA., Essawi ML; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt. dr_mahazaki@yahoo.com.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt. dr_mahazaki@yahoo.com.
Source: Journal of molecular neuroscience : MN [J Mol Neurosci] 2024 Oct 05; Vol. 74 (4), pp. 93. Date of Electronic Publication: 2024 Oct 05.
Publication Type: Journal Article
Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical and Molecular Profiles of a Cohort of Egyptian Patients with Collagen VI-Related Dystrophy.
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  Data: <searchLink fieldCode="AU" term="%22Sharaf-Eldin+WE%22">Sharaf-Eldin WE</searchLink>; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Rafat+K%22">Rafat K</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.<br /><searchLink fieldCode="AU" term="%22Issa+MY%22">Issa MY</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.<br /><searchLink fieldCode="AU" term="%22Elbendary+HM%22">Elbendary HM</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.<br /><searchLink fieldCode="AU" term="%22Eissa+NR%22">Eissa NR</searchLink>; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Hawaary+B%22">Hawaary B</searchLink>; Pediatrics Department, Faculty of Medicine, Aswan University, Aswan, Egypt.<br /><searchLink fieldCode="AU" term="%22Gaboon+NEA%22">Gaboon NEA</searchLink>; Medical Genetics Centre, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK.<br /><searchLink fieldCode="AU" term="%22Gleeson+JG%22">Gleeson JG</searchLink>; Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, CA, 92093, USA.<br /><searchLink fieldCode="AU" term="%22Essawi+ML%22">Essawi ML</searchLink>; Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt. dr_mahazaki@yahoo.com.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt. dr_mahazaki@yahoo.com.
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  Data: <searchLink fieldCode="JN" term="%229002991%22">Journal of molecular neuroscience : MN</searchLink> [J Mol Neurosci] 2024 Oct 05; Vol. 74 (4), pp. 93. <i>Date of Electronic Publication: </i>2024 Oct 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Humana+Press%22">Humana Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9002991 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1559-1166 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2208958696%22">08958696 </searchLink><i>NLM ISO Abbreviation: </i>J Mol Neurosci <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s12031-024-02266-8
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              Text: 2024 Oct 05
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