P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424004527 |
| _version_ | 1827322060441911296 |
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| author | Jeny Bazalar-Montoya Richard Rodriguez Giulliana Chávez-Pasco Peggy Martínez-Esteban Revathi Rajkumar Akanchha Kesari Carolyn Brown Erin Thorpe Ryan Taft Gioconda Manassero-Morales |
| author_facet | Jeny Bazalar-Montoya Richard Rodriguez Giulliana Chávez-Pasco Peggy Martínez-Esteban Revathi Rajkumar Akanchha Kesari Carolyn Brown Erin Thorpe Ryan Taft Gioconda Manassero-Morales |
| author_sort | Jeny Bazalar-Montoya |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:17:27Z |
| format | Article |
| id | doaj.art-ed917925916143929e44000368191b2d |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:17:27Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-ed917925916143929e44000368191b2d2024-03-09T09:32:03ZengElsevierGenetics in Medicine Open2949-77442024-01-012101306P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathyJeny Bazalar-Montoya0Richard Rodriguez1Giulliana Chávez-Pasco2Peggy Martínez-Esteban3Revathi Rajkumar4Akanchha Kesari5Carolyn Brown6Erin Thorpe7Ryan Taft8Gioconda Manassero-Morales9Instituto Nacional de Salud del Niño San Borja, Lima, PeruNeurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas, Lima, PeruInstituto Nacional de Salud del Niño San Borja, Lima, PeruInstituto Nacional de Salud del Niño San Borja, Lima, PeruIllumina, Inc. San Diego, CAIllumina, Inc. San Diego, CAIllumina, Inc. San Diego, CAIllumina, Inc. San Diego, CAIllumina, Inc. San Diego, CAInstituto Nacional de Salud del Niño San Borja, Lima, Peruhttp://www.sciencedirect.com/science/article/pii/S2949774424004527 |
| spellingShingle | Jeny Bazalar-Montoya Richard Rodriguez Giulliana Chávez-Pasco Peggy Martínez-Esteban Revathi Rajkumar Akanchha Kesari Carolyn Brown Erin Thorpe Ryan Taft Gioconda Manassero-Morales P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy Genetics in Medicine Open |
| title | P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy |
| title_full | P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy |
| title_fullStr | P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy |
| title_full_unstemmed | P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy |
| title_short | P412: A heterozygous 287 kb deletion of the X chromosome in a Peruvian girl with dystrophinopathy |
| title_sort | p412 a heterozygous 287 kb deletion of the x chromosome in a peruvian girl with dystrophinopathy |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424004527 |
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