P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq
| 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/S2949774423006428 |
| _version_ | 1827242924509757440 |
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| author | Jian Zhao Nicola Longo Robert Lewis Thomas Nicholas Steven Boyden Ashley Andrews Austin Larson Pinar Bayrak-Toydemir Lorenzo Botto Rong Mao |
| author_facet | Jian Zhao Nicola Longo Robert Lewis Thomas Nicholas Steven Boyden Ashley Andrews Austin Larson Pinar Bayrak-Toydemir Lorenzo Botto Rong Mao |
| author_sort | Jian Zhao |
| collection | DOAJ |
| first_indexed | 2024-03-08T10:27:02Z |
| format | Article |
| id | doaj.art-db977fa7a7114434bf88d8f80c09760f |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2025-03-21T22:04:06Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-db977fa7a7114434bf88d8f80c09760f2024-05-25T04:58:37ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100642P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seqJian Zhao0Nicola Longo1Robert Lewis2Thomas Nicholas3Steven Boyden4Ashley Andrews5Austin Larson6Pinar Bayrak-Toydemir7Lorenzo Botto8Rong Mao9Department of Pathology, University of Utah, ARUP Laboratories, Salt Lake City, UTDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UTDepartment of Pathology, University of Utah, ARUP Laboratories, Salt Lake City, UTDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UTDepartment of Human Genetics, Utah Center for Genetic Discovery, University of Utah, Salt Lake City, UTDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UTSection of Genetics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CODepartment of Pathology, University of Utah, ARUP Laboratories, Salt Lake City, UTDivision of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UTDepartment of Pathology, University of Utah, ARUP Laboratories, Salt Lake City, UThttp://www.sciencedirect.com/science/article/pii/S2949774423006428 |
| spellingShingle | Jian Zhao Nicola Longo Robert Lewis Thomas Nicholas Steven Boyden Ashley Andrews Austin Larson Pinar Bayrak-Toydemir Lorenzo Botto Rong Mao P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq Genetics in Medicine Open |
| title | P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq |
| title_full | P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq |
| title_fullStr | P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq |
| title_full_unstemmed | P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq |
| title_short | P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq |
| title_sort | p595 novel molecular mechanism in malan syndrome uncovered through detailed genome sequencing reanalysis exon level array and rna seq |
| url | http://www.sciencedirect.com/science/article/pii/S2949774423006428 |
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