P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene
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| Main Authors: | , , , , , , , , , , , , , , |
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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/S2949774425003346 |
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| _version_ | 1849711597981794304 |
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| author | Shruti Pande Christopher Grochowski Davut Pehlivan Parneet Kaur Zain Dardas Haowei Du Chelsi Rose Josephine Wincent Shalini Jhangiani Lorraine Potocki Philip Hastings Jennifer Posey Anna Lindstrand Claudia Carvalho James Lupski |
| author_facet | Shruti Pande Christopher Grochowski Davut Pehlivan Parneet Kaur Zain Dardas Haowei Du Chelsi Rose Josephine Wincent Shalini Jhangiani Lorraine Potocki Philip Hastings Jennifer Posey Anna Lindstrand Claudia Carvalho James Lupski |
| author_sort | Shruti Pande |
| collection | DOAJ |
| format | Article |
| id | doaj-art-e99afabf2897455284122f6aaa731818 |
| institution | DOAJ |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-e99afabf2897455284122f6aaa7318182025-08-20T03:14:35ZengElsevierGenetics in Medicine Open2949-77442025-01-01310229510.1016/j.gimo.2025.102295P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 geneShruti Pande0Christopher Grochowski1Davut Pehlivan2Parneet Kaur3Zain Dardas4Haowei Du5Chelsi Rose6Josephine Wincent7Shalini Jhangiani8Lorraine Potocki9Philip Hastings10Jennifer Posey11Anna Lindstrand12Claudia Carvalho13James Lupski14Baylor College of MedicineHuman Genome Sequencing Center, Baylor College of MedicineDivision of Neurology and Developmental Neuroscience, Baylor College of MedicineBaylor College of MedicineBaylor College of MedicineBaylor College of MedicineBaylor College of MedicineKarolinska Institutet, Stockholm, SwedenHuman Genome Sequencing Center, Baylor College of MedicineBaylor College of MedicineBaylor College of MedicineBaylor College of MedicineKarolinska Institutet, Stockholm, SwedenPacific Northwest Research Institute, Seattle, WABaylor College of Medicinehttp://www.sciencedirect.com/science/article/pii/S2949774425003346 |
| spellingShingle | Shruti Pande Christopher Grochowski Davut Pehlivan Parneet Kaur Zain Dardas Haowei Du Chelsi Rose Josephine Wincent Shalini Jhangiani Lorraine Potocki Philip Hastings Jennifer Posey Anna Lindstrand Claudia Carvalho James Lupski P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene Genetics in Medicine Open |
| title | P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene |
| title_full | P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene |
| title_fullStr | P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene |
| title_full_unstemmed | P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene |
| title_short | P330: Understanding the disease mechanisms and copy number variations at 17p11.2 locus that do not encompass the dosage sensitive RAI1 gene |
| title_sort | p330 understanding the disease mechanisms and copy number variations at 17p11 2 locus that do not encompass the dosage sensitive rai1 gene |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425003346 |
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