P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774423003886 |
| _version_ | 1797342042127335424 |
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| author | Parith Wongkittichote Laura Duque Lasio Martina Magistrati Sheel Pathak Brooke Sample Daniel Carvalho Adrianna Banzzatto Ortega Claudio de Gusmao Matheus Castro Tomi Toler Emanuele Bellacchio Cristina Dallabona Marwan Shinawi |
| author_facet | Parith Wongkittichote Laura Duque Lasio Martina Magistrati Sheel Pathak Brooke Sample Daniel Carvalho Adrianna Banzzatto Ortega Claudio de Gusmao Matheus Castro Tomi Toler Emanuele Bellacchio Cristina Dallabona Marwan Shinawi |
| author_sort | Parith Wongkittichote |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:26:42Z |
| format | Article |
| id | doaj.art-83ed346d99624bc78f0efca86c900de8 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-03-08T10:26:42Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-83ed346d99624bc78f0efca86c900de82024-01-27T07:08:03ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100388P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7Parith Wongkittichote0Laura Duque Lasio1Martina Magistrati2Sheel Pathak3Brooke Sample4Daniel Carvalho5Adrianna Banzzatto Ortega6Claudio de Gusmao7Matheus Castro8Tomi Toler9Emanuele Bellacchio10Cristina Dallabona11Marwan Shinawi12Children's Hospital of Philadelphia, Philadelphia, PAWashington University School of Medicine, St Louis, MOUniversity of Parma, Parma, ItalyWashington University School of Medicine, St Louis, MOHSHS St. Vincent Hospital, Green Bay, WISARAH Network of Rehabilitation Hospitals, Brasilia, BrazilHospital Infantil Pequeno Príncipe, Curitiba, BrazilMendelics Genomic Analyses, Sao Paulo, BrazilMendelics Genomic Analyses, Sao Paulo, BrazilWashington University School of Medicine, St Louis, MOBambino Gesù Children's Hospital, IRCCS, Rome, ItalyUniversity of Parma, Parma, ItalyWashington University School of Medicine, St Louis, MOhttp://www.sciencedirect.com/science/article/pii/S2949774423003886 |
| spellingShingle | Parith Wongkittichote Laura Duque Lasio Martina Magistrati Sheel Pathak Brooke Sample Daniel Carvalho Adrianna Banzzatto Ortega Claudio de Gusmao Matheus Castro Tomi Toler Emanuele Bellacchio Cristina Dallabona Marwan Shinawi P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7 Genetics in Medicine Open |
| title | P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7 |
| title_full | P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7 |
| title_fullStr | P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7 |
| title_full_unstemmed | P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7 |
| title_short | P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7 |
| title_sort | p360 phenotypic and molecular characterization of a cohort of patients with primary coq10 deficiency caused by pathogenic variants in coq7 |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423003886 |
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