P704: A virtual registry of 9K Leigh syndrome and primary mitochondrial disease cases constructed through semi-automated literature mining and expert curation
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425011124 |
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| author | Lishuang Shen Marie Lott Elizabeth McCormick Colleen Muraresku Kierstin Keller Douglas Wallace Zarazuela Zolkipli-Cunningham Shamima Rahman Marni Falk Xiaowu Gai |
| author_facet | Lishuang Shen Marie Lott Elizabeth McCormick Colleen Muraresku Kierstin Keller Douglas Wallace Zarazuela Zolkipli-Cunningham Shamima Rahman Marni Falk Xiaowu Gai |
| author_sort | Lishuang Shen |
| collection | DOAJ |
| format | Article |
| id | doaj-art-2cf19c0cfd6f4b9db744f5746d7bdc4f |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-2cf19c0cfd6f4b9db744f5746d7bdc4f2025-08-20T02:29:36ZengElsevierGenetics in Medicine Open2949-77442025-01-01310307310.1016/j.gimo.2025.103073P704: A virtual registry of 9K Leigh syndrome and primary mitochondrial disease cases constructed through semi-automated literature mining and expert curationLishuang Shen0Marie Lott1Elizabeth McCormick2Colleen Muraresku3Kierstin Keller4Douglas Wallace5Zarazuela Zolkipli-Cunningham6Shamima Rahman7Marni Falk8Xiaowu Gai9Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, Los Angeles, CACenter for Mitochondrial and Epigenomic Medicine, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PAMitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia, Philadelphia, PAMitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia, Philadelphia, PACenter for Mitochondrial and Epigenomic Medicine, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PACenter for Mitochondrial and Epigenomic Medicine, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, PAMitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia, Philadelphia, PADepartment of Genetics & Genomic Medicine, UCL Great Ormond Street Institute of Child HealthMitochondrial Medicine Frontier Program, Children’s Hospital of Philadelphia, Philadelphia, PAMedical College of Wisconsin, Milwaukee, WIhttp://www.sciencedirect.com/science/article/pii/S2949774425011124 |
| spellingShingle | Lishuang Shen Marie Lott Elizabeth McCormick Colleen Muraresku Kierstin Keller Douglas Wallace Zarazuela Zolkipli-Cunningham Shamima Rahman Marni Falk Xiaowu Gai P704: A virtual registry of 9K Leigh syndrome and primary mitochondrial disease cases constructed through semi-automated literature mining and expert curation Genetics in Medicine Open |
| title | P704: A virtual registry of 9K Leigh syndrome and primary mitochondrial disease cases constructed through semi-automated literature mining and expert curation |
| title_full | P704: A virtual registry of 9K Leigh syndrome and primary mitochondrial disease cases constructed through semi-automated literature mining and expert curation |
| title_fullStr | P704: A virtual registry of 9K Leigh syndrome and primary mitochondrial disease cases constructed through semi-automated literature mining and expert curation |
| title_full_unstemmed | P704: A virtual registry of 9K Leigh syndrome and primary mitochondrial disease cases constructed through semi-automated literature mining and expert curation |
| title_short | P704: A virtual registry of 9K Leigh syndrome and primary mitochondrial disease cases constructed through semi-automated literature mining and expert curation |
| title_sort | p704 a virtual registry of 9k leigh syndrome and primary mitochondrial disease cases constructed through semi automated literature mining and expert curation |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425011124 |
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